genetic mutation

Scientists have found that a genetic mutation in worms could further understanding of alcoholism in humans.

Using a novel combination of cutting-edge technologies to scan the human genome, researchers have identified a genetic mutation that identifies transplant recipients who experience rejection.

New findings about the causes of mad cow disease show that sometimes it may be genetic. Until several years ago, it was thought that the cattle prion disease bovine spongiform encephalopathy -- also called BSE or mad cow disease -- was a foodborne disease.

Using computer simulations and lab experiments, physical biochemists have discovered how a small genetic mutation that's known to cause Wilson disease subtly changes the structure of a large, complex protein the body uses to keep copper from building up to toxic levels.

The new study is available online from the Journal of Molecular Biology. Wilson disease, which affects about 150,000 people worldwide, is a genetic disorder that alters the copper-regulating protein.

(Rice University) Using computer simulations and lab experiments, physical biochemists at Rice University have discovered how a small genetic mutation that's known to cause Wilson disease subtly changes the structure of a large, complex protein the body uses to keep copper from building up to toxic levels.

The new study is available online from the Journal of Molecular Biology. Wilson disease, which affects about 150,000 people worldwide, is a genetic disorder that alters the copper-regulating protein.

(NYU Langone Medical Center / New York University School of Medicine) NYU Langone Medical Center researchers have long been making important contributions to the understanding of Alzheimer's disease.

They were among the first to characterize amyloid, the plaque-forming protein implicated in Alzheimer's, and the first to describe a genetic mutation in a familial form of the disease.

They also developed the first successful intervention program to reduce the need for placing patients in nursing homes and alleviate caregivers' depression.

What are the genes implicated in upright walking of humans? The discovery of four families in which some members only walk on all fours may help us understand how humans, unlike other primates, are able to walk for long periods on only two legs.

(Society for General Microbiology) Bacteria that cause the bubonic plague may be more virulent than their close relatives because of a single genetic mutation, according to research published in the May issue of the journal Microbiology.

A unique partnership between industry and academia has led to human clinical trials of a new drug for a rare class of blood diseases called myeloproliferative disorders, which are all driven by the same genetic mutation and can evolve into leukemia.

By injecting a customized "genetic patch" into early stage fish embryos, researchers were able to correct a genetic mutation so the embryos developed normally.

The research could lead to the prevention of up to one-fifth of birth defects in humans caused by genetic mutations, according to the scientists involved in the study.