Mitochondrial Diseases

Author: elena rindone
Date: 09/02/2009


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:

The encephalomyophatic form with myoglobinuria, ataxia and seizures

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.

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