Alexandra H Wood, Simon W Dubrey
British Journal of Hospital Medicine, Vol. 74, Iss. 4, 09 Apr 2013, pp 232 - 233
Friedreich's ataxia is the most common human hereditary ataxia. Inherited in an autosomal recessive pattern, the symptoms relate to progressive damage to the cerebellum, spinal cord and peripheral nervous system. Patients also frequently develop diabetes and are prone to a cardiomyopathy.
The cause is inadequate production of frataxin, a mitochondrial and cytosolic iron-binding protein. When deficient, multiple iron-sulphur binding proteins lack proper assembly, one consequence of which is mitochondrial iron overload. Proteins, including mitochondrial aconitase and complexes I, II and III of the electron transport chain (Rötig et al, 1997), are impaired, with reduced mitochondrial production of ATP (Lodi et al, 1999). The net effect is mitochondrial and nuclear damage with resultant cell death.
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