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Mitochondrial Cytopathies and related disorders
Inheritance patterns and prenatal diagnosis
Inheritance patterns
This is particularly complicated for Mitochondrial Cytopathies because the mitochondria is synthesised with the products of two genomes. Most proteins that make up the mitochondria are encoded by the nucleus and then transported to the mitochondria. However, the mitochondria also contain their own DNA which produces thirteen key proteins. The mitochondrial DNA abnormalities are only transmitted by the mother. Thus, the inheritance pattern of mitochondrial disease will depend upon whether the nuclear or mitochondrial DNA is affected.
Prenatal diagnosis
There have been only a few reports of successful prenatal diagnosis. This can only be attempted if the genetic or biochemical defect is identified. This is not available for the majority of patients and is still at a very early stage. Genetic counselling for these disorders is still difficult, but guidance is possible.
In the UK there has been recent funding (April 2007) of Specialist Commissioning for Rare Mitochondrial Disorders of Adults and Children. This funding allows specialist biochemical and genetic testing, as well specialist clinics, in three centres - Newcastle, London and Oxford.
How is it treated?
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