Single Mutation in Mitochondrial DNA Weakens Heart, Muscles
THURSDAY, Feb. 14 (HealthDay News) -- A single change in the DNA of
mitochondria -- the cellular power plants that generate energy in all
human cells -- has been found to cause degenerative heart and muscle
disease in mice, a new study says.
Mice harboring the mutation appeared normal early in life, but after
a year, they developed marked muscle and heart disease, similar to
what can develop in humans, according to University of California,
Irvine, researchers. Their findings are published in the Feb. 15
issue of Science.
The study provides further proof that the mitochondria play a central
role in human health, the researchers wrote.
"Consequently, mitochondrial DNA mutations and their related energy
defects are sufficient to cause age-related disease," study author
Douglas Wallace, director of the Center for Molecular and
Mitochondrial Medicine and Genetics at the university, said in a
prepared statement. "Therefore, mitochondrial energy deficiency may
be a common factor in these diseases."
The mice in the study inherited a relatively mild mitochondrial DNA
mutation that reduced a key enzyme of mitochondrial energy production
by 50 percent. This was done by researchers creating mice from
genetically altered female mouse embryonic stem cells.
Mitochondria exist in all human cells and have their own DNA. It is
inherited exclusively from the mother and is present in thousands of
copies per cell.
As the mitochondrial DNA of cells accumulates damage with age, the
blueprints required to sustain energy production are lost, the body's
equivalent of a brownout. The resulting age-related decline in
cellular energy production ultimately leads to tissue and organ
failure and the development of disease.
More information
The Muscular Dystrophy Association has more about mitochondrial
disorders .
http://www.statesma
auto/healthnews/
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StemCells subscribers may also be interested in these sites:
Children's Neurobiological Solutions
http://www.CNSfoundation.org/
Cord Blood Registry
http://www.CordBlood.com/at.cgi?a=150123
The CNS Healing Group
http://groups.yahoo.com/group/CNS_Healing
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