Genetics & Molecular Biology

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An international team has found evidence of substantial overlap for genetic risk factors shared between bipolar disorder, major depressive disorder and schizophrenia and less overlap between those conditions and autism and attention deficit-hyperactivity disorder (ADHD). The root causes of psychiatric illnesses are not known. Instead, for the past 125 years, clinicians have based diagnosis on a collection of symptoms observed in patients, something medical science has long left behind - and so the race has been on to find biological links. Now, the authors say five psychiatric disorders share…
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Inherited diseases such as cystic fibrosis or Huntington disease involve disease-causing genetic mutations that damage or remove a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms. But for congenital muscular dystrophies (CMDs), the sequence of the protein that is central to normal function is typically unaffected. Instead, the defects lie in processing proteins—ones that are responsible for modifying the central protein by adding sugar chains (glycans). Either loss of the glycans or disruption of their structure is sufficient to…
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For children and immune-compromised adults in developing countries, diarrheal disease induced by rotavirus can be life threatening. Rotavirus is the leading cause of diarrhea in infants and young children worldwide, causing more than 114 million episodes of diarrhea annually in children under the age of 5, 80% of which occur in developing countries. More than 600,000 children die annually from rotavirus (RV) infection Current rotaviral vaccines are highly effective in the Western world, but are not as effective in developing countries. Additionally, these vaccines are not appropriate for…
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A RIKEN research team says that an enzyme called Rines regulates Monoamine oxidase A (MAO-A), a major brain protein controlling emotion and mood, making it a potential drug target for treating depression. Monoamine oxidase A is an enzyme that breaks down serotonin, norephinephrine and dopamine, neurotransmitters well-known for their influence on emotion and mood. Nicknamed the "warrior gene", a variant of the MAOA gene has been associated with increased risk of violent and anti-social behavior. While evidence points to a link between MAO-A levels and various emotional patterns, however, the…
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I've just returned from a week on Kauai.  It is known as "The Garden Isle" of the Hawaiian chain, but recently that garden has been heavily sown with seeds of fear, suspicion, and conspiratorial narratives. On Wednesday, the 31st of July, there was a marathon session of the County Council during which hundreds of people lined up to give testimony about Bill 2491 from 1 pm until midnight.  Angst was a common theme. The activist speakers made hyperbolic assertions about heartless corporations perfectly willing to sicken the entire population of the island and destroy the environment…
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 Mosses are tiny plants with a simple body plan - they have no roots, no flowers and do not produce seeds. It was reasonable to assume they were also simple organisms also at the genetic level. Not so, a new study describes 32,275 protein-encoding genes from the moss Physcomitrella patens, about 10,000 genes more than the human genome contains.  Physcomitrella was chosen for whole-genome shotgun because it is well established as a model species for basic biology, biotechnology, and synthetic biology on a worldwide scale. The Joint Genome Institute (run, in American government…
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X chromosomes are special, even for genetic material. They differ in number between men and women and to achieve equality between sexes, one out of two X chromosomes in women is silenced. In Drosophila, the opposite happens: in male flies, the only available X chromosome is highly activated, to compensate for the absence of the second X-chromosome. Researchers from the Max Planck Institute of Immunobiology and Epigenetics (MPI-IE) in Freiburg haveshown how the RNA molecules and proteins involved in the activation find and stick to each other.  Similar to the way a monkey that grabs a…
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Newly published research reveals that aberrant signaling by a protein called transforming growth factor-beta (TGF-beta - already known for its role in some connective tissue disorders) is also a potent player in many types of allergies.  Scientists have long understood that allergies are the result of a complex interplay between environment and genes, but now, in what investigators call a scientific first, a single genetic pathway has been implicated in an array of allergic disorders.  TGF-beta is well known for its widespread effects in the body, from controlling how cells in a…
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The genetic sequence of the X chromosome, the female counterpart to the male-associated Y chromosome, reveals that large portions of the X have evolved to play a specialized role in sperm production. Yes, females have evolved a way to help control male sperm too - but that isn't all: despite its reputation as the most stable chromosome of the genome, the X has actually been undergoing relatively swift change. Taken together, these results suggest that it's time to re-examine the biological and medical impact of the X chromosome. The researchers made their conclusions after a comparison of the…
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Neural tube defects affect more than 300,000 babies born around the world each year, according to the U.S. Centers for Disease Control and Prevention. Neural tube defects, including anencephaly and spina bifida, are caused by the incomplete closure or development of the spine and skull.  Using dogs as a model, researchers recently found that a gene related to neural tube defects in man's best friend may be an important risk factor for human neural tube defects. The cause of neural tube defects is poorly understood but has long been thought to be associated with genetic, nutritional…