Mutation Causing Mitochondrial Disease

iVillage Member
Registered: 04-09-2008
Mutation Causing Mitochondrial Disease
Tue, 08-12-2008 - 8:45am

Mutation Causing Mitochondrial Disease
Found More Common

PRNewswire-USNewswi re - 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


iVillage Member
Registered: 12-14-2005
Tue, 08-12-2008 - 9:53am

Kirby wrote about this today:

And a summary in AJC from Poling's Great Aunt:

Boost vaccine safety

Published on: 08/12/08

In recent months, a vitriolic public health debate has been taking place, sparked by the case of Hannah Poling, a 9-year-old Georgia girl with autism. Her parents, neurologist Jon Poling and his wife, Terry, filed in federal no-fault vaccine court, asserting that vaccines caused their daughter's condition and asking for compensation for the lifelong care Hannah will require.

Without a formal hearing, the federal government conceded the nine vaccines Hannah received on July 19, 2000, significantly aggravated an underlying medical condition — mitochondrial dysfunction, or an impaired functioning of how cells create energy. This predisposed Hannah "to deficits in cellular energy metabolism and manifested as a regressive encephalopathy with features of autism spectrum disorder." In simple terms, Hannah has autism.

This concession, which became public in March, has prompted strong reactions. Some government officials are, ironically, fueling public distrust of immunizations by failing to acknowledge — much less address — emerging vaccine safety issues. And every day, more parents and some pediatricians reject the vaccination schedule.

Former National Institutes of Health Director Bernadine Healy has entered the debate, saying the scientific community should never turn its back on a hypothesis out of fear for what it might reveal: If you know there is a susceptible group, she said in a television interview, "you can save those children. If you turn your back on the notion there is a susceptible group ... what can I say?"

Yet, amazingly, just last month the Federal Interagency Autism Coordinating Committee refused to mention vaccine safety in its strategic plan.

The matter is urgent. One in every 150 children has an autism spectrum disorder. Mitochondrial dysfunction is not rare among these children. The best evidence suggests that at least 4 percent — and perhaps 20 percent or more — of autistic children have mitochondrial dysfunction.

With stakes this high, it's time for policy-makers to take five common-sense steps to ensure that more children are not damaged by the very vaccines intended to protect them.

• With Marshall Plan dispatch, Congress should launch a bold, nothing-off-the-table program of basic scientific research on the role of mitochondrial dysfunction and neuro-inflammation in autism and other disorders. Funding — $200 million for starters — must not be taken from the Vaccine Injury Compensation Program.

• Reform vaccine practices so they are as safe as possible for both children in general and susceptible subgroups. Examine the schedule, number and frequency of vaccines, use of combination vaccines, preservatives used and ages at which vaccines are administered. Find ways to identify children for whom vaccination or another event might cause or worsen mitochondrial dysfunction, leading to autism. Study siblings to identify biological markers that could lead to prevention, screening and treatment.

• Piggyback new research onto existing efforts. Use the Newborn Screening Saves Lives Act to propel advances concerning genetic and metabolic disorders. Modify the National Children's Study to test alternate vaccine schedules. And integrate new analyses into ongoing studies, such as mitochondrial research already under way at Johns Hopkins University and the Cleveland Clinic Foundation.

• Identify children nationwide who have abrupt developmental regressions, including those that are vaccine-related, and speed them into research and intense early intervention. And strengthen the Vaccine Adverse Event Reporting System, including imposing serious consequences for health care providers who do not report bad reactions.

• Improve the Vaccine Injury Compensation Program. Encourage parents to focus on early intervention by allowing longer than three years to file. Update the Vaccine Injury Table, making it easier for families to receive compensation as new discoveries emerge. And explore limiting compensation to the most critical immunizations, returning adverse reactions from other vaccines to the regular court system.

A loud wake-up call from a beautiful little redheaded girl from Georgia has provided policy-makers with a historic opportunity to tackle critical issues of vaccine safety. If they fail to answer, what can I say?

— Margaret Dunkle, Hannah Poling's great-aunt, directs the Early Identification and Intervention Collaborative for Los Angeles County. She is a senior fellow at the Center for Health Services Research and Policy at George Washington University.