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Scientists discover reservoir of mitochondrial DNA mutations present in the general population

Researchers at the University of Newcastle, England, and the Virginia Bioinformatics Institute at Virginia Tech in the United States have revealed a large reservoir of mitochondrial DNA mutations present in the general population. Clinical analysis of blood samples from almost 3,000 infants born in north Cumbria, England, showed that at least 1 in 200 individuals in the general public harbor mitochondrial DNA mutations that may lead to disease.

11 Aug 2008

Anti-reflux surgery - research may lead to changes in treatment recommendations

Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals. The finding leaves researchers to wonder if these patients truly benefit from anti-reflux surgery commonly performed in these children.

4 Aug 2008

Potentially new biomarkers for Alzheimer's

Every aging baby boomer listens for the footsteps of Alzheimer's, and for good reason: It's estimated that 10 million American boomers will develop the disease. The need to develop preventative strategies, ideally long before Alzheimer's destructive, clinical symptoms appear, is critical.

19 Jul 2008

Apert's syndrome - new discovery

In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

14 Jul 2008

Scientists generate the most precise map of genetic recombination ever

Genetic recombination, the process by which sexually reproducing organisms shuffle their genetic material when producing germ cells, leads to offspring with a new genetic make-up and influences the course of evolution.

10 Jul 2008

Discovery of gene mutation which causes epilepsy and mental retardation - but only in women

An Australian and British research team have discovered a gene mutation that causes epilepsy and mental retardation but only in women.

12 May 2008

Previously unseen switch regulates breast cancer response to estrogen

A tiny modification called methylation on estrogen receptors prolongs the life of these growth-driving molecules in breast cancer cells, according to research by scientists at Emory University's Winship Cancer Institute.

8 May 2008

New key mechanism in cell division discovered

Scientists at the IFOM-IEO Campus have revealed the function of a protein that is indispensable for passing on an accurate copy of the genome from mother to daughter cells. This study, published in Cell, opens up new avenues of research to reduce the toxicity of chemotherapy in the treatment of cancer.

8 May 2008

Gene sequence that can make half of us fatter is discovered

A gene sequence linked to an expanding waist line, weight gain and a tendency to develop type 2 diabetes has been discovered as part of a study published today in the journal Nature Genetics.

6 May 2008

It's official - there's a rogue fat gene!

Scientists from Oxford and Cambridge say in their second discovery they have found new genetic variants that influence fat mass, weight and risk of obesity and increase the chances of being fat, which may explain why some people are always battling with their weight.

5 May 2008

Discovery of gene behind new form of intellectual disability

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP).

24 Apr 2008

Scientists solve mystery about critical mechanism of gene expression

Although letters representing the three billion pairs of molecules that form the "rungs" of the helical DNA "ladder" are routinely called the human "genetic code," the DNA they comprise transmits traits across generations in a variety of ways, not all of which depend on the sequence of letters in the code.

22 Apr 2008