Author: elena rindone
Mitochondrial diseases are characterized by a reduced ATP synthesis with symptoms affecting the tissues with the highest oxidative metabolism: muscle and nerves.
Mitochondrial disease (encephalomyopathies) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some mitochondrial disorders only affect a single organ, but many involve multiple organ systems and often present with prominent neurologic and myopathic features.
There are 4 different clinical manifestations of CoQ10 deficiency:
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.
- A predominantly cerebellar disease with ataxia and cerebellar atrophy
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Cerebellar ataxia and coenzyme Q10 deficiency.
- A widespread multisystem involment with hypertophic cardiomyophaty, ataxia, optic nerve atrophy, deafness, generalized amyotrophy and nephrotic syndrome
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
- Leight encephalopathy with growth retardation, ataxia, deafness and lactic acidosis.
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.