Basis
of the Disease
Mitochondrial diseases result from failures of the mitochondria,
specialized compartments present in every cell of the body except
red blood cells. Mitochondria are responsible for creating more
than 90% of the energy needed by the body to sustain life and
support growth. When they fail, less and less energy is generated
within the cell. Cell injury and even cell death follow. If this
process is repeated throughout the body, whole systems begin to
fail, and the life of the person in whom this is happening is
severely compromised. The disease primarily affects children,
but adult onset is becoming more and more common.
Diseases
of the mitochondria appear to cause the most damage to cells of
the brain, heart, liver, skeletal muscles, kidney and the endocrine
and respiratory systems.
Depending
on which cells are affected, symptoms may include loss of motor
control, muscle weakness and pain, gastro-intestinal disorders
and swallowing difficulties, poor growth, cardiac disease, liver
disease, diabetes, respiratory complications, seizures, visual/hearing
problems, lactic acidosis, developmental delays and susceptibility
to infection.
