Category Health/Medical

Euan Ashley and his colleagues discovered an association between heart failure and a pathway linked to narcolepsy. Mark Tuschman

The gene identified by Stanford researchers codes for a protein first identified when a mutated form was shown to cause narcolepsy.
Caring for patients with heart failure costs the US $40 billion a year. Few new treatments have been developed, and those that exist produce varied responses among patients. One major challenge to the development of new treatments has been the lack of genes that can be confidently associated with heart failure. Prof. Euan Ashley is hopeful that the new finding will open doors to evaluating possible treatments.

orexin (hypocretin) neuropeptide precursor

Perez wondered if there were genetic reasons for discrepancies in treatment outcom...

Transcriptional control of bcat-1-mediated regulation of lifespan.

Out of a ‘haystack’ of 40,000 genes from 3 different organisms, scientists have found genes involved in physical aging. If you influence only 1 of these genes, the healthy lifespan of lab animals is extended – and possibly that of humans, too.

Until now, this was mostly limited to genes of individual model organisms such as the C. elegans nematode, which revealed that ~1% of its genes could influence life expectancy. However, researchers have long assumed that such genes arose in the course of evolution and in all living beings whose cells have a preserved a nucleus – from yeast to humans.

Researchers at ETH Zurich and JenAge consortium from Jena have now systematically gone through genomes of 3 different organisms in searc...

This image shows reduced levels of BRCA1 (red) in neurons (blue). Amyloid-beta plaques in the brain can deplete neurons of BRCA1, potentially contributing to cognitive deficits in Alzheimer’s disease. Credit: Elsa Suberbielle

Researchers from the Gladstone Institutes have shown for the first time that the protein BRCA1 is required for normal learning and memory and is depleted by Alzheimer’s disease. BRCA1 is a key protein involved in DNA repair, and mutations that impair its function increase the risk for breast and ovarian cancer. The new study shows Alzheimer’s disease is associated with a depletion of BRCA1 in neurons and that BRCA1 depletion can cause cognitive deficits.

“BRCA1 has so far been studied primarily in dividing (multiplying) cells and in cancer, which is characterized by a...

Elders contribute to the fitness of younger individuals by caring for grandchildren and passing down important cultural knowledge. Credit: USDA

Many human gene variants have evolved specifically to protect older adults against neurodegenerative and cardiovascular diseases, thus preserving their contributions to society, report researchers. “We unexpectedly discovered that humans have evolved gene variants that can help protect the elderly from dementia,” said Prof Ajit Varki, MD. “Such genes likely evolved to preserve valuable and wise grandmothers and other elders, as well as to delay or prevent the emergence of dependent individuals who could divert resources and effort away from the care of the young.”

The standard model of natural selection predicts that once the age of reproduction en...