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Tag Archives: Genetics

Gene family linked to brain evolution implicated in severity of autism symptoms

Gene family linked to brain evolution implicated in severity of autism symptoms

The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus. The gene family is made up of over 270 copies of a segment of DNA called DUF1220. DUF1220 codes for a protein domain — a specific functionally important segment within a protein Continue reading

Protein common in cancers jumps anti-tumor mechanisms

Protein common in cancers jumps anti-tumor mechanisms

A Stony Brook University-led international team of infectious disease researchers have discovered how a cellular protein, called STAT3, which is overactive in a majority of human cancers, interferes with an antitumor mechanism in cells and therefore promotes the growth of cancer. The findings, to be published this week in the Proceedings of the National Academy of Sciences ( PNAS ) add to the understanding of cancer development and provide a basis for potentially new targeted methods to prevent and treat cancer. In the paper, titled “STAT3 interrupts ATR-Chk1 signaling to allow oncovirus-mediated cell proliferation,” lead author Sumita Bhaduri-McIntosh, MD, PhD, and colleagues made their discovery by using the Epstein-Barr virus (EBV) as a tool to probe fundamental cancer development-related questions. Continue reading

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

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