Biochemists Solve a Birth-Defect Mystery

Written by Dr. Dali Edwards. Posted in Genetics and Birth Defects

BYU biochemistry professor Emily Bates

The cellular cause of birth defects like cleft palates, missing teeth and problems with fingers and toes has been a tricky puzzle for scientists.

Now Professor Emily Bates and her biochemistry students at Brigham Young University have placed an important piece of the developmental puzzle. They studied an ion channel that regulates the electrical charge of a cell. In a new study published by the journal Development, they show that blocking this channel disrupts the work of a protein that is supposed to carry marching orders to the nucleus.

Without those instructions, cells don't become what they were supposed to become -- be that part of a palate, a tooth or a finger. Though there are various disorders that lead to birth defects, this newly discovered mechanism may be what some syndromes have in common.

Bates and her graduate student, Giri Dahal, now want to apply the findings toward the prevention of birth defects -- particularly those caused by fetal alcohol syndrome and fetal alcohol spectrum disorder.

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Indians and Europeans Share a Milky Past

Written by Cambridge University. Posted in Genetics and Birth Defects

milk

Cambridge University researchers have discovered that lactose tolerant milk-drinkers in India and Europe could be related to the same person who lived at some point in the last 10,000 years.

The Cambridge team, in association with fellow researchers at CCMB Hyderabad, UCL, University of Tartu, Harvard and University of Chennai, were studying genetic changes that allow some 32 per cent of the world’s population to be lactase persistent – able to digest lactose, the sugar in milk. To their surprise they found the same mutation, with the same origin, at high frequency in Europe and India.

The team’s study may also help scientists’ understanding of evolutionary processes such as biological adaptation and how culture and economic developments affect human biology. Its authors say the study has shown that with a little kick from natural selection, genes can spread far, wide and fast.

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Number of Genes Associated with MS Doubles

Written by Cambridge University. Posted in Genetics and Birth Defects

network-of-nerve-cells

Critical insight provided into the disease mechanisms behind multiple sclerosis.

Scientists have identified 29 new genetic variants linked to multiple sclerosis, providing key insights into the biology of a very debilitating neurological disease. Many of the genes implicated in the study are relevant to the immune system, shedding light onto the immunological pathways that underlie the development of multiple sclerosis.

The research, involving an international team of investigators led by the Universities of Cambridge and Oxford and funded by the Wellcome Trust, is published today, 11 August, in the journal Nature. This is the largest MS genetics study ever undertaken and includes contributions from almost 250 researchers as members of the International Multiple Sclerosis Genetics Consortium and the Wellcome Trust Case Control Consortium.

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