1 in 200: Mutation Causing Mitochondrial Disease More Common Than Previously Believed

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New Research Shows One in 200 People Born with DNA Mutation That Can

Lead to Devastating, Often Fatal Disease

Monday, August 11, 2008 11:21 AM

http://www.istockanalyst.com/article/viewiStockNews+articleid_2499545.html

Mutation Causing Mitochondrial Disease More Common Than Previously Believed

PITTSBURGH, Aug. 11 /PRNewswire-USNewswire/ -- The United Mitochondrial

Disease Foundation (UMDF) today announced landmark research finding that

one in every 200 people has a DNA mutation that could potentially cause

a mitochondrial disease in them or their offspring. Mitochondrial

disease is a devastating and often fatal disease, and mitochondrial

disorders are at the core of many well known diseases and chronic

illnesses, such as Alzheimer's disease, Parkinson's disease and autism

spectrum disorders. This research, which was partially funded by UMDF,

was conducted by Chinnery, MBBS, PhD, MRCPath, FRCP, Wellcome

Senior Fellow in Clinical Genetics and professor of neurogenetics at

Newcastle University in the UK. Dr. Chinnery's findings are published in

the current issue of the American Journal of Human Genetics.

'This ground breaking discovery confirms what researchers and experts

have believed for some time - mitochondrial disease is not rare,' said

A. Mohan, Jr., Executive Director and CEO of UMDF. 'We now know

that 1 in 200 people carry the mutation for this horrible, debilitating

disease. This discovery underscores the need for additional research

funding to help better diagnose and treat affected individuals and to

learn more about how mitochondrial dysfunction is connected to other

diseases.'

Mitochondrial diseases are extremely complicated and often go

undiagnosed or misdiagnosed for years. They develop when the

mitochondria - the body's main energy source - do not function properly.

Mitochondria are responsible for creating more than 90 percent of the

energy needed by the body to sustain life and support growth. Because

they are in almost all human cells, this 'power failure' results in

disease that can affect almost any body tissue. Therefore, the severity

of symptoms and how the disease manifests itself can vary from person to

person. One person may suffer difficulty breathing, have uncontrollable

seizures and/or digestive problems, while another may not be able to

walk, talk, see or hear.

'The demonstration by Dr. Chinnery and colleagues that at least one in

200 newborns harbor known pathogenic mitochondrial DNA mutations

indicates that mitochondrial dysfunction is a major underlying risk

factor for human disease,' said Dr. C. Wallace, Bren

Professor of Molecular Medicine, Director of the Center for Molecular

and Mitochondrial Medicine and Genetics, University of

California-Irvine. 'This new observation augments the rapidly expanding

body of evidence indicating that common mitochondrial DNA lineages

modulate the risk for developing a wide variety of diseases including

diabetes, cardiovascular disease, Parkinson Disease, Alzheimer Disease,

various cancers, as well as longevity.'

The mitochondrial DNA encodes essential genes for mitochondrial energy

production. Therefore, mitochondrial dysfunction represents a major

unexplored area of human biology of vital importance to human health.

Along with the diseases noted above, mitochondrial dysfunction has been

implicated in autoimmune diseases such as multiple sclerosis and lupus.

While it cannot yet be said that mitochondrial dysfunction causes these

problems, it is clear that mitochondria are involved because their

function is measurably disturbed.

'Dr. Chinnery's research raises many new questions - none of which can

be answered without additional dollars allocated for research into

mitochondrial disease and dysfunction,' said Mohan. 'This line of

research holds great promise. Ultimately, the investment we make may

enable doctors and researchers to transform medicine, benefiting not

only those suffering from mitochondrial disease, but the many millions

of Americans who suffer from the wide range of diseases related to

mitochondrial dysfunction.'

Dr. Chinnery's study was performed on 3000 randomly ascertained neonatal

cord blood samples, screening for ten specific DNA mutations related to

mitochondrial disease. The study's findings establish that the incidence

of new mutations and the frequency of asymptomatic carriers are not rare

and emphasize the importance of developing new approaches to prevent

transmission.

SOURCE United Mitochondrial Disease Foundation

(Source: PR Newswire )

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