Fwd: 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

Mutation Causing Mitochondrial Disease More Common Than Previously

Believed

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.â€

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,â€

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.â€

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.â€

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.

_http://www.umdf.org/site/apps/nlnet/content2.aspx?

c=dnJEKLNqFoG & b=3050935 & con

tent_id={F71C63EE-892E-4870-A706-E20ABB1EFD9F} & notoc=1_

(http://www.umdf.org/site/apps/nlnet/content2.aspx?

c=dnJEKLNqFoG & b=3050935 & content_id={F71C63EE-892E

-4870-A706-E20ABB1EFD9F} & notoc=1)

A. Gruttadauria, DC, DACAN

Defeat Autism Now! Clinician

Diplomate of the American Chiropractic Academy of Neurology

Long Island Spectrum Center, Inc.

100 Manetto Hill Road, Suite 106

Plainview, NY 11803

Office

Fax

_www.lispectrum.com_ (http://www.lispectrum.com/)

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