Genetics
Gene Mutation Found That Increases Severity of Multisystem Syndrome
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Johns Hopkins scientists studying a rare inherited syndrome marked by eye and kidney problems, learning disabilities and obesity have discovered a genetic mutation that makes the syndrome more severe but that alone doesn’t cause it. Their report appears in the advance online edition of Nature (Dec. 4).
The new discovery about Bardet-Beidl syndrome (BBS) came from a panoply of studies—starting with comparative genomics and experiments with yeast, and moving to experiments with zebrafish and genetic analysis of families with the syndrome—and mirrors what experts expect for the genetically complex common diseases that kill most Americans, like diabetes, heart disease and cancer.
Critical role of p53 gene
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Fruit flies can live significantly longer, and remain healthy, when activity of the fly version of the tumor-suppressing protein p53 is reduced in nerve cells.
Published in Current Biology, the results shed important new light on the role this “protector of the genome” plays in aging and point to p53 as a viable target for anti-aging drugs.
Genetics and language or genetic language?
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Most comparisons of language and inherited traits consider whether genetic patterns conform with expected relationships observed by linguists. But few have considered the use of genetic data to support specific hypotheses raised by linguists regarding the relationships between language families.
In a forthcoming article in Current Anthropology, Francisco M. Salzano (Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil) examines the proposals of three eminent linguists through the lens of genetic data.
Radiation-induced chromosomal aberrations persist
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Chromosomal aberrations persist for years after occupational exposure to ionizing radiation, according to a new report in the September issue of Genes, Chromosomes & Cancer.
Establishing a link between complex chromosome aberrations, or a biological marker for one of these chromosome abnormalities, and disease would be helpful in establishing the correct diagnosis and prognosis, Dr. Manoor Prakash Hande, from National University of Singapore, told Reuters Health. “Our study was mainly focused on the identification of a biomarker for plutonium exposure and, as such, it may have minimal clinical implications.”
Gene Linked to Age-Related Blindness
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A variation in a single gene is strongly associated with an increased risk of age-related macular degeneration (AMD), the leading cause of untreatable blindness in the elderly, according to a new study.
Based on the finding, a simple test might be developed that could help identify people at risk for this condition, speculate researchers at the University of Pittsburgh. They believe that identification of the PLEKHA1 gene may also help researchers find more effective ways to prevent this ocular degeneration.
Gene engineered stem cells heal rat spines -study
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Genetically engineered stem cells can help rats’ severed spinal cords grow back together, according to a study published on Tuesday.
Rats given the treatment, using stem cells taken from rat embryos, could move their legs again after their spines were severed in the lab, said the researchers’ report in the Journal of Neuroscience.
The scientists hope the approach, which generated a new fatty cover for the spinal cord cells called the myelin sheath, also could be shown to work in people.
Strong genetic basis for tonsillitis
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Recurrent tonsillitis (inflammation of the tonsils) may have a strong genetic component, researchers report in the Archives of Otolaryngology and Head and Neck Surgery.
Lead investigator Dr. Ellen Kvestad from the Norwegian Institute of Public Health, Oslo told Reuters Health that the disease is known to run in families but the finding that this is due to genetic factors with no contribution from common environmental factors “was a bit surprising.”
Kvestad and associates used data from 9479 Norwegian twins to investigate the possible genetic and environmental contributions to recurrent tonsillitis.
Gene mutation linked to lumbar disc disease
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A mutation in a cartilage-related gene called CILP leads to disease of the vertebral discs in the lower spine, according to a report in the research journal Nature Genetics.
A predisposition to lumbar disc disease runs in families, suggesting that genetic factors are an important underlying cause, Dr. Shiro Ikegawa of the Institute of Physical and Chemical Research, Tokyo and associates point out.
