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Tag Archives: Genetics

New gene linked to key heart attack risk factor found by novel gene-finding approach

New gene linked to key heart attack risk factor found by novel gene-finding approach

Scientists have discovered a previously unrecognized gene variation that makes humans have healthier blood lipid levels and reduced risk of heart attacks — a finding that opens the door to using this knowledge in testing or treatment of high cholesterol and other lipid disorders. But even more significant is how they found the gene, which had been hiding in plain sight in previous hunts for genes that influence cardiovascular risk. This region of DNA where it was found had been implicated as being important in controlling blood lipid levels in a report from several members of the same research team in 2008 Continue reading

Critical role of one gene to our brain development

Critical role of one gene to our brain development

Research from the University of Adelaide has confirmed that a gene linked to intellectual disability is critical to the earliest stages of the development of human brains. Known as USP9X , the gene has been investigated by Adelaide researchers for more than a decade, but in recent years scientists have begun to understand its particular importance to brain development. In a new paper published online in the American Journal of Human Genetics , an international research team led by the University of Adelaide’s Robinson Research Institute explains how mutations in USP9X are associated with intellectual disability Continue reading

Autism, intellectual disability incidence linked with environmental factors

Autism, intellectual disability incidence linked with environmental factors

An analysis of 100 million US medical records reveals that autism and intellectual disability (ID) rates are correlated at the county level with incidence of genital malformations in newborn males, an indicator of possible congenital exposure to harmful environmental factors such as pesticides. Autism rates — after adjustment for gender, ethnic, socioeconomic and geopolitical factors — jump by 283 percent for every one percent increase in frequency of malformations in a county. Intellectual disability rates increase 94 percent. Continue reading

‘Velcro protein’ found to play surprising role in cell migration

‘Velcro protein’ found to play surprising role in cell migration

Studying epithelial cells, the cell type that most commonly turns cancerous, Johns Hopkins researchers have identified a protein that causes cells to release from their neighbors and migrate away from healthy mammary, or breast, tissue in mice. They also found that deletion of a cellular “Velcro protein” does not cause the single-celled migration expected. Their results, they say, help clarify the molecular changes required for cancer cells to metastasize Continue reading

‘Velcro protein’ found to play surprising role in cell migration

‘Velcro protein’ found to play surprising role in cell migration

Studying epithelial cells, the cell type that most commonly turns cancerous, Johns Hopkins researchers have identified a protein that causes cells to release from their neighbors and migrate away from healthy mammary, or breast, tissue in mice. They also found that deletion of a cellular “Velcro protein” does not cause the single-celled migration expected. Their results, they say, help clarify the molecular changes required for cancer cells to metastasize. Continue reading

‘Master regulator’ of obesity? Distant IRX3 gene appears to interact with obesity-related FTO gene mutations

‘Master regulator’ of obesity? Distant IRX3 gene appears to interact with obesity-related FTO gene mutations

Mutations within the gene FTO have been implicated as the strongest genetic determinant of obesity risk in humans, but the mechanism behind this link remained unknown. Now, an international team of scientists has discovered that the obesity-associated elements within FTO interact with IRX3, a distant gene on the genome that appears to be the functional obesity gene. Continue reading

Link between missing DNA, birth defects confirmed

Link between missing DNA, birth defects confirmed

In 2010, scientists in Italy reported that a woman and her daughter showed a puzzling array of disabilities, including epilepsy and cleft palate. Continue reading

Obesity in dads may be associated with offspring’s increased risk of disease

Obesity in dads may be associated with offspring’s increased risk of disease

Feb. 5, 2013 — A father’s obesity is one factor that may influence his children’s health and potentially raise their risk for diseases like cancer, according to new research from Duke Medicine. Continue reading

Researcher uncovers potential cause, biomarker for autism and proposes study to investigate theory

Researcher uncovers potential cause, biomarker for autism and proposes study to investigate theory

Jan. 31, 2013 — A New York-based physician-researcher from Touro College of Osteopathic Medicine, best known for his research into fertility and twinning, has uncovered a potential connection between autism and a specific growth protein that could eventually be used as a way to predict an infant’s propensity to later develop the disease. Continue reading

Early-onset puberty in females explained

Early-onset puberty in females explained

Jan. Continue reading