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orasa sukmark

Junk DNA Can Revive and Cause Disease, Study Finds - NYTimes.com - 0 views

  • can rise from the dead like zombies
  • dead gene come back to life and cause a disease
  • a dead gene come back to life and cause a disease.
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  • Some of those genes, surprised geneticists reported Thursday, can rise from the dead like zombies, waking up to cause one of the most common forms of muscular dystrophy.
    • adisa narula
       
      Do these genes revive automatically?
  • It is a dominant genetic disease.
  • people who have the disease cannot smile.
  • FSHD affects about 1 in 20,000 people
  • function, if any, is largely unknown.
  • function, if any, is largely unknown
  • FSHD, is one of the most common forms of muscular dystrophy.
  • in a way FSHD was the easy case — it is a disease that affects every single person who inherits the genetic defect. Other diseases are more subtle, affecting some people more than others, causing a range of symptoms.
  • The dead gene was also repeated on chromosome 10, but that area of repeats seemed innocuous, unrelated to the disease. Only chromosome 4 was a problem.
  • chromosome 4 was a problem.
  • No one whose dead gene was repeated more than 10 times ever got FSHD
  • it was not completely inactive. It is always transcribed
  • copied by the cell as a first step to making a protein.
  • But the transcriptions were faulty, disintegrating right away. They were missing a crucial section, called a poly (A) sequence, needed to stabilize them.
  • But the transcriptions were faulty, disintegrating right away. They were missing a crucial section, called a poly (A) sequence, needed to stabilize them.
  • extra copies change the chromosome’s structure, shutting off the whole region so it cannot be used.
Sasicha Manupipatpong

Memory in adults impacted by versions of four genes - 2 views

  • advanced understanding of the genetic components of Alzheimer's disease and of brain development.
  • understanding of the genetic components of Alzheimer's disease and of brain development
  • certain versions of four genes may speed shrinkage of a brain region involved in making new memories
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  • hippocampus, normally shrinks with age, but if the process speeds up, it could increase vulnerability to Alzheimer's disease
  • two genes associated with intracranial volume -- the space within the skull occupied by the brain when the brain is fully developed in a person's lifespan
  • gene variants identified in the first study do not cause Alzheimer's, but they may rob the hippocampus of a kind of "reserve" against the disease
  • cause cell destruction and dramatic shrinkage of this key brain site
  • almost twice the Alzheimer's risk if he or she had these versions of the gene
  • if a person with one of these variants did get Alzheimer's, the disease would attack an already compromised hippocampus and so would lead to a more severe condition at a younger age than otherwise
  • Alzheimer's disease causes much of its damage by shrinking hippocampus volume
  • loses a greater-than-average amount of volume due to the gene variants we've identified, the hippocampus is more vulnerable to Alzheimer's
  • associations impacting intracranial volume, which is an indirect measure of the size of the brain at full development.
  • brain volume and intracranial volume are both highly heritable
  • no associations for brain volume
  • one of these genes has played a unique evolutionary role in human development, and perhaps we as a species are selecting this gene as a way of providing further advances in brain development
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    The shrinking of the hippocampus, which occurs with age in normal people, was found to be accelerated by certain versions of four genes, which could increase susceptibility to Alzheimer's disease, which also affects the volume of the hippocampus.
chanon chiarnpattanodom

Stem cell therapy could repair some heart damage - Yahoo! News - 2 views

  • Patients with advanced heart disease who received an experimental stem cell therapy
  • Study authors described the trial as the largest to date to examine stem cell therapy as a route to repairing the heart in patients with chronic ischemic heart disease and left ventricular dysfunction.
  • injections of their own stem cells, taken from their bone marrow, into damaged areas of their hearts.
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  • The patients -- 82 of whom were men -- all had chronic heart disease, along with either heart failure or angina or both, and their left ventricles were pumping at less than 45 percent of capacity.
  • None of the participant
  • eligible for revascularization surgery
  • heart disease was so advanced
  • Those who received the stem cell therapy saw a small but significant boost in the heart's ability to pump blood, measuring the increase from the heart's main pumping chamber at 2.7 percent more than placebo patients.
  • However, other factors showed no improvement
  • heart's maximum oxygen consumption did not change
  • defects in the heart were not healed by the treatment
  • This is the kind of information we need in order to move forward with the clinical use of stem cell therapy," said lead investigator Emerson Perin
  • "With this mapping procedure, we have a roadmap to the heart muscle," said Perin
  • Heart disease is the leading killer in the United States, claiming nearly 600,000 lives per year, according to the US Centers for Disease Control and Prevention.
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    A recent experiment was done on elderly patients who had heart diseases, those that had progressed too far for coronary surgery. Patients were injected with their own stem cells in the bone marrow into areas in the heart. The pumping capacity did improve a little, but overall the oxygen use and the defects did not change. This is a stepping stone towards using stem cells to treat people in difficult situations where a normal surgery would not.
Paige Prescott

Genes Are No Crystal Ball For Disease Risk - Science News - 0 views

  • For all but four diseases, the genetic data would fail to determine who is likely to contract the condition in most cases,
  • genetics are only part of the story when it comes to determining health. Lifestyle, environment and random chance play a bigger role than genes, or work with genes, to cause or protect against disease.
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    Looking at twin data, researchers found that genetics alone could not account for the risk of disease.
nidthamsirisup

Mysterious Noncoding DNA: 'Junk' or Genetic Power Player? | PBS NewsHour - 0 views

  • Genes represent only a tiny fraction -- 1 percent -- of our overall genetic material. Then there's the other 99 percent of our DNA -- the stuff that doesn't make protein
  • Researchers have found that some of this noncoding DNA is in fact essential to how our genes function and plays a role in how we look, how we act and the diseases that afflict us.
  • Embedded in this 99 percent is DNA responsible for the mechanics of gene behavior: regulatory DNA. Greg Wray of Duke University's Institute for Genome Sciences and Policy describes the regulatory DNA as the software for our genes, a set of instructions that tells the genome how to use the traditional coding genes.
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  • "It's like a recipe book," Wray said. "It tells you how to make the meal. You need to know the amounts. You need to know the order. The noncoding DNA tells you how much to make, when to make it and under what circumstances."
  • common diseases are probably more influenced by regulatory differences, Harismendy said. These include Type 2 diabetes, Crohn's disease, Alzheimer's Disease and a variety of cancers, including breast, colon, ovarian, prostate and lung.
  • According to Wray, research has shown that diseases like bipolar syndrome and clinical depression may be associated with noncoding mutations that determine whether the brain is producing too much or not enough of a particular neurotransmitter. One noncoding mutation gives a person almost complete protection against the nasty malaria parasite, plasmodium vivax.
  • Another piece of noncoding DNA regulates the enzyme responsible for lactose tolerance, the ability to digest milk. Research by Wray and other scientists has shown that in four populations where dairy consumption is a vital part of the diet, new mutations have appeared that essentially keep the gene that produces the lactase enzyme from switching off.
  • And recent research done by evolutionary biologists suggests that differences in regulatory DNA may represent a major part of what separates us from chimpanzees.
Nitchakan Chaiprukmalakan

Biotechdaily - Human Mitochondrial Mutations Repaired by New Technique - 2 views

  • researchers have identified a generic approach to correct mutations in human mitochondrial DNA by targeting corrective RNAs,
  • In adults, many aging disorders have been associated with defects of mitochondrial function, including diabetes, Parkinson’s disease, cancer, heart disease, stroke, and Alzheimer’s disease.
  • The introduction of nucleus-encoded small RNAs into mitochondria is critical for the replication, transcription, and translation of the mitochondrial genome,
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  • The study defined a new role for a protein called polynucleotide phosphorylase (PNPASE) in regulating the import of RNA into mitochondria. Reducing the expression--or output--of PNPASE decreased RNA import, which impaired the processing of mitochondrial genome-encoded RNAs. Reduced RNA processing inhibited the translation of proteins required to maintain the mitochondrial electron transport chain that consumes oxygen during cell respiration to produce energy. With reduced PNPASE, unprocessed mitochondrial-encoded RNAs accumulated, protein translation was inhibited, and energy production was compromised, leading to stalled cell growth.
  • Geng Wang developed a strategy to target and import specific RNA molecules encoded in the nucleus into the mitochondria and, once there, to express proteins needed to repair mitochondrial gene mutations.
  • First, the researchers had to find a way to stabilize the reparative RNA so that it was moved out of the nucleus and then localized to the mitochondrial outer membrane. This was accomplished by modifying an export sequence to direct the RNA to the mitochondrion. Once the RNA was in the area of the transport machinery on the mitochondrial surface, then a second transport sequence was required to direct the RNA into the targeted organelle. With these two modifications, a wide range of RNAs were targeted to and imported into the mitochondria, where they worked to repair defects in mitochondrial respiration and energy production in two different cell line models of human mitochondrial disease.
    • Nitchakan Chaiprukmalakan
       
      This article shows the importance of the RNAs in making proteins for the mitochondria to work efficiently.  The article summarizes a method in repairing the mitochondria that is still being worked on.
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    Mutations in the mitochondrial genome inflicts diseases
Sasicha Manupipatpong

New genes linked to brain size, intelligence - 2 views

  • genes that increase your risk for a single disease that your children can inherit
  • factors that cause tissue atrophy and reduce brain size, which is a biological marker for hereditary disorders
  • schizophrenia, bipolar disorder, depression, Alzheimer’s disease and dementia
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  • sample large enough to reveal clear patterns in genetic variation and show how these changes physically alter the brain
  • smaller brains
  • gene variants that deplete brain tissue beyond normal in a healthy person
  • unearth new genetic variants in people who have bigger brains as well as differences in regions critical to learning and memory
  • screened the genomes of people suffering from a specific brain disease and combed their DNA to uncover a common variant.
  • consistent relationship between subtle shifts in the genetic code and diminished memory centers
  • variations in their DNA that help boost or lower their brains’ susceptibility to a vast range of diseases
  • People also can take preventive steps through exercise, diet and mental stimulation to erase the effects of a bad gene
  • Once we identify the gene, we can target it with a drug to reduce the risk of disease
  • genes that explain individual differences in intelligence
  • gene called HMGA2 affected brain size as well as a person’s intelligence
  • People whose HMGA2 gene held a letter “C” instead of “T” on that location of the gene possessed larger brains and scored more highly on standardized IQ tests
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    Specific genes have been identified which affect brain size and intelligence--a difference of one nucleotide in the DNA sequence could determine how well you score on a standardized IQ test.
Pop karnchanapimonkul

Sight Seen: Gene Therapy Restores Vision in Both Eyes: Scientific American - 0 views

  • gene therapy to treat blindness in 12 adults and children with Leber's congenital amaurosis (LCA), a rare inherited eye disease that destroys vision by killing photoreceptors—light-sensitive cells in the retina at the back of the eye.
  • genetic mutations in retinal cells. One mutated gene that causes the disorder is named RPE65. An enzyme encoded by RPE65 helps break down a derivative of vitamin A called retinol into a substance that photoreceptors need to detect light and send signals to the brain.
  • injected a harmless virus carrying normal copies of RPE65
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  • subsequently began producing the enzyme
  • proved so much they no longer met the criteria for legal blindness
  • injected the functional genes into the previously untreated eye
  • improved as soon as two weeks after the operation: They could navigate an obstacle course, even in dim light, avoiding objects that had tripped them up before, as well as recognize people's faces and read large signs
  • brains were much more responsive to optical input as well.
  • second round of gene therapy further strengthened the brain's response to the initially treated eye as well as the newly treated one
  • that neuroplasticity plays a role
  • visual cortex responding to the newly flowing channel of information from the second eye bolster activity in areas of the visual cortex responding to the initially treated eye.
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    Article about how the enzyme produced from gene therapy is used to cure blindness in an eye genetic disease.
Nitchakan Chaiprukmalakan

Biotechdaily - Low MicroRNA Activity Characterizes Inflamed Lung Tissues - 0 views

  • A recent study examined the interaction between a specific microRNA (miRNA) and the activity of the inflammatory cytokine interleukin 13 (IL-13).
  • In the current study, investigators at the Cincinnati Children's Hospital Medical Center (Ohio, USA) examined the effect that stimulation of IL-13 activity has on microRNAs, particularly miR-375
  • They reported in the March 28, 2012, online edition of the journal Mucosal Immunology that IL-13 induced changes in epithelial gene and protein expression including the consistent downregulation of miR-375 in IL-13 stimulated human esophageal squamous and bronchial epithelial cells.
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  • Analysis of miR-375 levels in a human disease characterized by IL-13 overproduction - the allergic disorder eosinophilic esophagitis (EE) - revealed downregulation of miR-375 in EE patient samples compared with control patients. Low levels of miR-375 expression levels indicated disease activity.
  • “MiR-375 is proof of principle that microRNAs are involved in fine-tuning IL-13-mediated responses, which opens up a set of new possibilities for novel therapeutic targets for treatment of allergic disease.”
  • “The identification of a microRNA that regulates IL-13-induced changes and inflammatory pathways is a significant advancement for the understanding and future treatment of allergic disease,
orasa sukmark

Making a Friendlier Mosquito - Biology Online - 1 views

  • Genetically modified mosquitoes that cannot transmit malaria are one hope for battling the disease that still kills over one million people a year. But that plan faces some serious snags, according to UC Davis researchers who are suggesting an alternative strategy.
  • nsmit malaria are one hope for battling the disease that still kills over one million people a year. But that plan face
  • Genetically modified mosquitoes that cannot transmit malaria are one hope for battling the disease that still kills over one million people a year.
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  • enetically modified mosquitoes that cannot transmit malaria are one hope for battling the disease that still kills over one million people a year. But that plan faces some serious snags, according to UC Davis researchers who are suggesting an alternative strategy
  • releasing into the wild mosquitoes genetically engineered to resist malaria
  • If the resistant mosquitoes breed and spread their genes through the population, malaria transmission should be shut down.
  • the malaria resistance genes available are not very effective
  • , there's no way to reliably push the genes through the population.
  • Transposons are essentially DNA parasites that snip themselves in or out of the genome under the right circumstances. Scientists can add a new gene into a transposon and use it to carry that DNA into the insect genome. But it's in the interest of that transposon to just get rid of the extra DNA,
  • a transposon that gives an advantage to mosquitoes that already carry genes to block malaria, so that those genes spread through the population by natural selection.
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    scientists have found a way to reduce mosquitoes that can transmit malaria. 
Pop karnchanapimonkul

Genetic adaptation of fat metabolism key to development of human brain - 0 views

  • 300,000 years ago humans adapted genetically to be able to produce larger amounts of Omega-3 and Omega-6 fatty acids. This adaptation may have been crucial to the development of the unique brain capacity in modern humans.
  • higher risk of developing disorders like cardiovascular disease.
  • investigated the genes for the two key enzymes that are needed to produce Omega-3 and Omega-6 fatty acids from vegetable oils.
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  • genetic adaptation for high production of Omega-3 and Omega-6 fatty acids is found only in humans
  • 300 000 years ago in the evolutionary line that led to modern humans
  • important factor for human survival in environments with limited dietary access to fatty acids
  • In today’s life situation, with a surplus of nourishment, this genetic adaptation contributes instead to a greater risk of developing disorders like cardiovascular disease
  • first study to show a genetic adaptation of human fat metabolism
  • thrifty gene
  • adaptation that contributed to enhanced survival in an earlier stage of human development, but in a life situation with an excess of food instead constitutes a risk factor for lifestyle diseases
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    This article explains how earlier genetic adaptations that help our survival is now harming us.
Mickey Tsai

Parkinson's disease sufferer Sheila Roy can write for the first time in 15 years thanks... - 0 views

  • one of only 15 people worldwide to undergo the radical treatment, which involves inserting corrective genes into the brain
  • The genes provide the coded instructions for proteins needed to make dopamine, a brain chemical essential for proper control of movement.
  • Lack of dopamine leads to the symptoms of tremor, stiffness and poor balance associated with Parkinson’s.
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  • Mrs Roy is taking part in an early-stage study of the ProSavin therapy
  • Following her treatment Sheila Roy has been able to carry out tasks like writing, something she has been unable to do for 15 years
  • Gene therapies hold great promise for people with Parkinson’s in the future, as they could mean an end to the daily regime of drugs that most people with the condition currently face.
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    A woman with Parkinson's was able to write for the first time in 15 years because of gene therapy. Parkinson's includes symptoms such as tremors, loss of balance which makes it impossible to do even simple tasks. Doctors injected a modified virus carrying the genes to the motor centre of her brain which provide coded instructions for proteins needed to make dopamine. Lack of dopamine leads of the symptoms associated with Parkinson's. This is part of the ProSavin therapy developed by Oxford BioMedica. Gene therapies hold a lot of hope for people with Parkinson's that could end the daily routine of drugs that most of them go through.
Kaoko Miyazaki

Long Intergenic Noncoding RNAs: New Links in Cancer Progression - 1 views

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    The newly discovered and currently being researched lincRNAs are seen to be one of the causes of cancer. The function of lincRNAs to control gene expression by regulating the number of histones according to specific chromatin, may cause cancer when done wrong or are altered in some way. The epigenetic alterations that occur when this function is done wrong may lead to the disease and the inheritance of it. Which could be hypothesized as to why people with a history of cancer (and other diseases) within their families have higher likelihood to being diagnosed with the disease. But because lincRNA is a very recent discovery and only less than 1% of it has has been characterized in the human body, evidence of this is still being researched, tested and studied.
Changul Louis Yeum

Study Says DNA's Power to Predict Illness Is Limited - 0 views

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    The answer, according to a new study of twins, is, for the most part, "no." While sequencing the entire DNA of individuals is proving fantastically useful in understanding diseases and finding new treatments, it is not a method that will, for the most part, predict a person's medical future.
nidthamsirisup

Epigenetics Seeks Clues to Mental Illness in Genes' Life Story - Science in 2011 - NYTi... - 0 views

  • epigenetics, the study of how people’s experience and environment affect the function of their genes.
  • Studies suggest that such add-on, or epigenetic, markers develop as an animal adapts to its environment, whether in the womb or out in the world — and the markers can profoundly affect behavior.
  • In studies of rats, researchers have shown that affectionate mothering alters the expression of genes, allowing them to dampen their physiological response to stress. These biological buffers are then passed on to the next generation: rodents and nonhuman primates biologically primed to handle stress tend to be more nurturing to their own offspring, and the system is thought to work similarly in humans.
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  • the offspring of parents who experience famine are at heightened risk for developing schizophrenia, some research suggests — perhaps because of the chemical signatures on the genes that parents pass on.
  • in some people with autism, epigenetic markers had silenced the gene which makes the receptor for the hormone oxytocin. Oxytocin oils the brain’s social circuits, and is critical in cementing relationships; a brain short on receptors for it would most likely struggle in social situations.
  • In one large study of people with schizophrenia, researchers at Johns Hopkins are analyzing blood and other data to see whether the degree of epigenetic variation is related to the inherited risk of developing the disorder. In another, researchers at Tufts are studying the genes of animals dependent on opiates to see how epigenetic alterations caused by drug exposure affect the opiate sensitivity of the animals’ offspring.
nidthamsirisup

Engineered stem cells seek out and kill HIV in living mice - 0 views

  • human stem cells can be genetically engineered into HIV-fighting cells
  • surrogate model
  • CD8 cytotoxic T lymphocytes -- the "killer" T cells that help fight infection -- from an HIV-infected individual and identified the molecule known as the T cell receptor, which guides the T cell in recognizing and killing HIV-infected cells.
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  • cloned the receptor and used this to genetically engineer human blood stem cells.
  • mature T cells that can attack HIV in tissues where the virus resides and replicates.
  • CD4 cells are white blood cells that are an important component of the immune system, helping to fight off infections.
  • CD4 "helper" T cells
  • engineering stem cells to form immune cells that target HIV is effective in suppressing the virus in living tissues in an animal model
  • increased
  • HIV in the blood decreased.
    • wasin kusakabe
       
      Using mice as lab rats, researchers are able to produce a large amount of T cells that can fight off HIV more effectively.
  • The engineered stem cells developed into a large population of mature, multi-functional HIV-specific CD8 cells that could specifically target cells containing HIV proteins. The researchers also discovered that HIV-specific T cell receptors have to be matched to an individual in much the same way an organ is matched to a transplant patient.
  • Expanding on previous research providing proof-of-principle that human stem cells can be genetically engineered into HIV-fighting cells
  • In this current study, the researchers similarly engineered human blood stem cells and found that they can form mature T cells that can attack HIV in tissues where the virus resides and replicates. They did so by using a surrogate model, the humanized mouse, in which HIV infection closely resembles the disease and its progression in humans.
  • increased, while levels of HIV in the blood decreased. CD4 cells are white blood cells that are an important component of the immune system, helping to fight off infections. These results indicated that the engineered cells were capable of developing and migrating to the organs to fight infection there.
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    Stem cells that are engineered to produce T cells that can help fight off HIV.
Nickyz P.

GEN | Magazine Articles: Firm Focuses Operations on Gene Silencing - 0 views

  • It is developing therapeutics to prove the validity of ddRNAi in treating cancer, infectious diseases, and disorders of the central nervous system.
  • The ddRNAi platform focuses on the long-term downregulation of genes, making it suitable for targeting chronic life-threatening diseases. “We are silencing genes instead of introducing new genes, which separates us from traditional gene therapy companies,” Dr. French asserts.
  • “This targeted treatment markedly enhanced the benefits of radiation therapy in both cellular and tumor models,” the researchers concluded. Other radiotherapy-resistant tumors may benefit from the shRNAs created for the prostate cancer study.
Kantham Hongdusit

Gene transfer to human joints: Progress toward a gene therapy of arthritis - 0 views

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    Rheumatoid Arthritis is an incurable disease that is often difficult to treat. The article describes how a transfer of cultured synovial fibroblasts can increase the amount of IL-1Ra receptor, which offers a therapeutic gene that can be used to obtain intra articular transgene expression.
nidthamsirisup

Stem Cell Treatment Spurs Cartilage Growth - Science News - 0 views

  • A small molecule dubbed kartogenin encourages stem cells to take on the characteristics of cells that make cartilage, a new study shows
  • And treatment with kartogenin allowed many mice with arthritis-like cartilage damage in a knee to regain the ability to use the joint without pain.
  • Kartogenin steers the stem cells to wake up and take on cartilage-making duties. This is an essential step in the cartilage repair that falls behind in people with osteoarthritis, the most common kind of arthritis, which develops from injury or long-term joint use.
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  • The molecule turned on genes that make cartilage components called aggrecan and type II collagen. Tests of mice with cartilage damage similar to osteoarthritis showed that kartogenin injections lowered levels of a protein called cartilage oligomeric matrix protein. People with osteoarthritis have an excess of the protein, which is considered a marker of disease severity.
  • kartogenin inhibits a protein called filamin A in the mesenchymal stem cells
Sea Maskulrath

Shocking pictures show group of 14-year-old schoolboys puffing on shisha pipes in bar |... - 0 views

  • A video of a group of 14-year-olds smoking shisha pipes in a bar has emerged online, horrifying parents and anti-smoking campaigners.
  • They want to warn shisha enthusiasts it isn't a safe alternative to cigarettes - smoking a pipe for an hour is the the equivalent of puffing away on 100 cigarettes.
  • ‘Smoke from tobacco contains a number of carcinogens which damage the DNA in cells,’
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  • ‘Just one damaged cell can divide and multiply uncontrollably and quite quickly develop into a large tumour. This is what causes lung cancer,
  • around from person to person, this raises the risk of transmitting diseases such as tuberculosi
  • As the mouthpiece is passe
  • nd hepatitis.
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    WOW, I guess we know we had to stop shisha right? unbelievable 
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