In a major advance for schizophrenia research, an international team of scientists led by the University of California, San Diego School of Medicine and involving Trinity College Dublin researchers has identified a gene mutation strongly linked to s…
A new study using a pig model of cystic fibrosis (CF) suggests that low levels of a growth promoting hormone at or before birth may contribute to growth defects in patients with CF.
The study, led by University of Iowa researchers and published…
A recent scientific discovery made by researchers at the Institut de recherches cliniques de Montréal (IRCM) led by Dr. Javier Marcelo Di Noia, Director of the Mechanisms and Genetic Diversity research unit, was published online today by The Journa…
Mayo Clinic researchers have identified a naturally occurring “good guy” for patients infected with HIV. It is a helpful gene mutation that impairs the HIV virus’ cell-killing machinery, thus preserving immune system function. Moreover, Mayo’s experiments in mice suggest that the presence or absence of this mutation in the gene known as Vpr may play a central role in determining which HIV-infected patients develop full-blown, fatal AIDS.
While studying mice with a mutant gene whose counterpart causes inherited glaucoma in humans, researchers have discovered a second gene mutation that worsens the structural eye defect that causes this type of glaucoma. The newly discovered gene mutation affects production of L-DOPA. The researchers suggest that it might be feasible to prevent glaucoma by administering L-DOPA, which is used in treating Parkinson’s disease.
Researchers have determined the molecular machinery that triggers normal cardiac muscle growth and survival, and have linked defects in this complex to an inherited form of human cardiomyopathy, a type of heart failure where an enlarged heart loses its ability to pump blood. Published in the December 27, 2002 issue of the journal Cell, the study also identifies a subset of German cardiomyopathy patients with a specific gene mutation that disrupts the heart muscle’s normal stretch activity. This mutation has apparently been passed down through several generations of Northern Europeans.
Researchers have discovered a gene mutation that causes a condition apparently identical to Huntington’s Disease, helping explain why some people with the disorder do not have a separate mutation found in most cases. The finding may help reveal why some diseases, like Huntington’s, Alzheimer’s and Parkinson’s, destroy some brain cells while sparing others. “For all practical purposes this is Huntington’s Disease, yet it’s caused by a different mutation on a completely different chromosome,” said Russell L. Margolis, M.D., associate professor of Psychiatry at Hopkins and director of the Johns Hopkins Laboratory of Genetic Neurobiology. “This is a rare version of an already rare disorder, but the mutation that causes it may not only help us better understand Huntington’s Disease, but could boost our understanding of many other neurodegenerative disorders.”