Posts for 'Genetics' Category

An international team of researchers co-led by the University of Michigan School of Public Health  has found 95 regions of the human genome where genetic variants  are associated with blood cholesterol  and triglyceride levels, which are major indicators of heart disease risk.

Of the total, 59 variants were associated with cholesterol and triglyceride lipid levels for the first time, said Tanya Teslovich, a postdoctoral research fellow at the U-M School of Public Health and first author on the study. Teslovich said identifying the 59 new variants on the genome is "probably the most exciting part of the study.”

Researchers look at four lipid traits: total cholesterol, LDL-cholesterol, (the so-called bad cholesterol), HDL-cholesterol (good cholesterol), and triglycerides. A combination of genetics and environment plays a role in determining those levels in our blood.

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Epigenetic changes to DNA in breast cancers are directly linked with diet, alcohol, and tumour size, and could hence give a glimpse of the severity of the disease, according to researchers from Brown University and the University of California San Francisco.

The findings point to the emergence of new biomarkers that researchers hope will give a more detailed view of the environmental factors that contribute to tumour development and could, in the future, provide improvements in diagnostics and treatment decisions, as well as potentially more personalized recommendations to help prevent recurrence.

The use of epigenetic profiles as biomarkers of disease subtype and severity is a rapidly emerging field with other notable contributions from this group- a field that is being advanced with the support of the NIH, and shows promise for developing novel clinical tools.

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Researchers said Thursday they have identified gene variants that help explain high rates of renal disease among African-Americans, who have a four times greater risk of kidney problems than whites.

According to the study published in the journal Science, variants in the APOL1 gene are the culprits, and likely evolved as a survival mechanism against lethal parasites in Africa.

Investigators at Beth Israel Deaconess Medical Center and the Universite Libre de Bruxelles found patients with focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) had variants in the APOL1 gene that changed the APOL1 protein sequence.

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Most viruses need cell-entry proteins called fusogens in order to invade cells. We have known that the herpes virus fusogen does not act alone and that a complex of two other viral cell-entry proteins is always required.

We expected that this complex was also a fusogen, but after determining the structure of this key protein complex, we found that it does not resemble other known fusogens," said senior author Ekaterina Heldwein, PhD, assistant professor in the molecular biology and microbiology department at Tufts University School of Medicine.

"This unexpected result leads us to believe that this protein complex is not a fusogen itself but that it regulates the fusogen. We also found that certain antibodies interfere with the ability of this protein complex to bind to the fusogen, evidence that antiviral drugs that target this interaction could prevent viral infection," Heldwein continued. Heldwein is also a member of the biochemistry and molecular microbiology program faculties at the Sackler School of Graduate Biomedical Sciences at Tufts.

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Analysis of a subject's DNA can place people with rural origins to within five miles of their family's home, a team from the University of Edinburgh claimed. The findings raise the possibility that people who live in cities but have roots in rural communities elsewhere in the same country could locate exactly where their ancestors came from. Previous studies have uncovered genetic differences between populations in different countries, making it possible, for example, to predict whether someone is of northern or southern Italian descent.

The Edinburgh researchers, working with scientists in Italy and Croatia, tested whether the same analysis could be used to distinguish between people from the same country who were separated only by short distances. The team, led by Jim Wilson, studied the genes of people whose four grandparents came from the same village in Scotland, Croatia or Italy. None of the volunteers were related to each other.

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A study of over 1000 centenarians published in the prestigious science journal Science has identified 150 gene variants associated with extreme longevity, which has been defined as a lifespan of over a 100 years.

Researchers found, while most super-centenarians carried all the longevity markers, centenarians had various genetic variants combinations categorized in 19 genetic profiles.

While, centenarians were not found to be free of genetic variants associated with diseases, the fact remains that they remain unaffected by diseases partly due to the longevity SNPs that negate the negative effect of disease gene variants.

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Researchers have linked alopecia areata, an autoimmune disease that causes hair thinning and hair loss in over five million Americans, to eight genes, which will likely open the flood gates for new treatments, Health Day reported.

The researchers were surprised to find that other autoimmune diseases like rheumatoid arthritis and type 1 diabetes have already been linked to these same eight genes, so drugs already in development could be used for hair loss.This greatly accelerated our ability to think about new drugs for patients with alopecia areata because.

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Childhood obesity is fast becoming one of the most pressing concerns facing kids across the country. Sometimes it's genetics and sometimes obesity is a family affair. Studies have shown that a child's risk of obesity greatly increases if one or more parent is overweight or obese.

Barbara Reyelts has more in this week's connect with kids. Brian's mom says her son has been overweight since the day he was born. "People tell you that it's baby fat, and he'll lose it. But he just kept going. And he was always a big eater from day one." "Ate a lot of chicken, you know, fried chicken, and steak." Brian's doctor enrolled him in a medical program for overweight kids. But there was a catch.

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Using new, whole-genome sequencing technology coupled with classic methods of genetic investigation, scientists at Duke University, along with colleagues at Johns Hopkins, have discovered two mutations in the same gene that seem to cause metachondromatosis in humans.

This is a rare, heritable disease that leads to bony growths, mostly on the hands and feet. The discovery, published June 17 in the open-access journal PLoS Genetics, was accomplished by sequencing the entire genome of just one individual from a family with multiple cases of metachondromatosis, a feat that until recently would not have been possible.

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On the final day at the Society for Prevention Research conference in Denver, a panel of academics debated whether the use of genetic markers to identify children at risk was “forging new prevention science frontiers or walking on thin ice”.

The panel was inspired by the 2009 book, “Preventing mental, emotional and behaviour disorders among young people: Progress and possibilities”. The specific paragraph from the book which the moderator, Elizabeth Ginesi, used to spark debate was.

“The prospect of using genetic and other neurobiological markers to identify young people at risk for mental, emotional and behavioural disorders raises important concerns, such as potential stigma, bias, and denial of insurance coverage. However, knowingly withholding scientific knowledge form populations who can benefit from them also raises ethical issues”.

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