SchaferAutismReport: Mutation Causing Mitochondrial Disease Found More Common

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Tuesday, August 12, 2008

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Vol. 12 No. 118p

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RESEARCH

Mutation Causing Mitochondrial Disease Found More Common

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PEOPLE

Man Sentenced In Health Care Cruelty Case

Families Face Big Bill After Dogs Barred From Flight

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PUBLIC HEALTH

Dentists Warns Against Lead In Fillings

Calif. Lawmakers Weigh Ban On

Chemical Found In Baby Bottles

EVENTS

Autism Is Treatable Defeat Autism Now Conference - San Diego

COMMENTARY

" Revolutionary " News From Medicine: 1 in 200 People Carry

Mitochondrial Disease Mutation

Olmsted on Autism: No Child By Two

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RESEARCH

Mutation Causing Mitochondrial Disease

Found More Common

tinyurl.com/63zcr4

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

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