Re: Breaking News: 1 in every 200 children may have mitochondrial disorder

[Guest guest]

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

**************Looking for a car that's sporty, fun and fits in your budget?

Read reviews on AOL Autos.

(http://autos.aol.com/cars-BMW-128-2008/expert-review?ncid=aolaut00050000000017

)

[Guest guest]

Maybe the chord blood banking will push more study. I hope so. We did

thankfully bank chord bloo for my son. Wish we had for my daughter.