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New research reveals frequency of mitochondrial mutations

This article was originally published in Scrip

Executive Summary

The incidence of DNA mutations that can cause mitochondrial disease is more common than previously believed, scientists say. According to research carried out at Newcastle University in the UK, and partially funded by The United Mitochondrial Disease Foundation (UMDF), one in every 200 people has a gene mutation that could lead to mitochondrial disease in them or their offspring. The discovery confirms what many researchers and experts have suspected for some time, establishing that the incidence of new mutations is relatively high and asymptomatic carriers are not rare. Mitochondrial diseases cover a range of illnesses, some of which are fatal, and mitochondrial disorders are at the core of many common diseases such as diabetes, cardiovascular disease, Parkinson's disease, Alzheimer’s disease and various cancers. Charles Mohan, executive director and CEO of UMDF believes the findings emphasise the need for more research into mitochondrial disease and dysfunction. The findings are published in the latest issue of the American Journal of Human Genetics (July 31st, p 254).

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