Navigation Links
New Research Shows One in 200 People Born with DNA Mutation That Can Lead to Devastating, Often Fatal Disease
Date:8/11/2008

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 Patrick 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 Charles 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. Douglas C. Wallace, Donald 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
Copyright©2008 PR Newswire.
All rights reserved

Related medicine technology :

1. Velos Set to Clear 50 Percent Market Penetration of Large U.S. Clinical Research Sites by Year End
2. New Research on Pre-Eclampsia in Mice May Have Important Implications for Humans
3. New AAHC Toolkit Available to Optimize Clinical Research Administration
4. New Research Provides Evidence that Tea May Improve Attention and Focus, Keep Brain Cells Healthy, & Influence Genetics in Cancer
5. Nemours Center for Childhood Cancer Research Team at the Alfred I. duPont Hospital for Children Identifies the Function of a Biomarker Present in Prostate Cancer Cells: New Insight into Therapeutic Benefit for Patients with Advanced Prostate Cancer
6. MAP Pharmaceuticals Announces Publication of MAP0004 Study in Current Medical Research and Opinion
7. Abeome and Cato Research to Collaborate on Ovarian Cancer Therapeutic
8. Snapshots of Eyes Could Serve as Early Warning of Diabetes or Diabetic Eye Disease, U-M Researchers Report
9. Association of Clinical Research Organizations (ACRO) Names Dr. Derek Winstanly Chair-Elect
10. Secretary Reinforces VAs Commitment to Research Safety and Veteran Focus
11. Pharmasset Announces Initiation of Combination Study of Clevudine and Viread(R) for HBV by French National Agency for Research on AIDS and Viral Hepatitis (ANRS)
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/28/2016)... NEW YORK , April 28, 2016  The ... reached 275 million dollars, according to Kalorama Information and ... includes typing, immunoassays and nucleic acid testing.  The healthcare ... had made progress in developing blood collection stations and ... was made in Kalorama Information,s report, Blood ...
(Date:4/28/2016)... , April 28, 2016   Acsis , a ... that leading IT market research and advisory firm IDC ... the IDC MarketScape: Worldwide Pharmaceutical Track and Trace Software ... report provides an assessment of the capabilities and business ... trace software market. Logo - http://photos.prnewswire.com/prnh/20160427/360791LOGO ...
(Date:4/27/2016)... Schweiz, April 27, 2016 ... CEO Forums in Zürich gab Strekin AG ... Wirkstoffkandidaten STR001 zur Erhaltung des Resthörvermögens von ... bekannt. Für die umfassende Phase-II-Doppelblindstudie mit Placebo-Kontrollgruppe ... angeworben. STR001 wird während der Operation direkt ...
Breaking Medicine Technology:
(Date:4/29/2016)... ... April 29, 2016 , ... Shamangelic Healing, Sedona Arizona's ... brand Alpha BRAIN and New Mood Daily-Stress Formula for brain optimization and wellness ... to the store is just one more way Shamangelic Healing supports people’s quest ...
(Date:4/29/2016)... ... April 29, 2016 , ... ... awareness and author of best seller "LOVE, MEDICINE and MIRACLES") addresses touchy topics ... 2, 2016 and podcasted thereafter . Dr. Bernie Siegel, author of a ...
(Date:4/29/2016)... ... April 29, 2016 , ... ... infants born with severe congenital diaphragmatic hernia have better survival rates if surgery ... diaphragmatic hernia (CDH)—a condition where the diaphragm fails to form completely, letting abdominal ...
(Date:4/29/2016)... ... April 29, 2016 , ... World Patent ... Gyrociser, an exercise invention which aids in proper muscle development. , "The Gym ... and Creative Director of World Patent Marketing. "Globalization has threatened the future growth ...
(Date:4/29/2016)... New York, NY (PRWEB) , ... April 29, 2016 , ... New York City based ... surgery . This surgery is a very effective way to treat obstructive sleep apnea. Dr. ... , Orthognathic surgery is a procedure that involves one or both jaw bones. This ...
Breaking Medicine News(10 mins):