Mitochondrial Diseases with Mutations of Nuclear DNA



Mitochondrial Diseases with Mutations of Nuclear DNA





Most autosomal recessive, lack ragged red fibers (RRFs). Onset: infancy or childhood. Can be classified biochemically (Table 99.1). Selected disorders described below.








Table 99.1 Classification of Mitochondrial Diseases Associated with Mutations of Nuclear DNA





































Biochemical abnormality Clinical examples
Substrate transport Carnitine deficiency
Substrate use Pyruvate dehydrogenase deficiency
Citric acid cycle Fumarase deficiency
Respiratory chain Cytochrome-c-oxidase deficiency
Oxidation-phosphorylation Luft disease (molecular basis not known)
Protein importation Mohr-Tranebjaerg (deafness-dystonia) syndrome
Intergenomic signaling Depletion of mtDNA
Membrane lipid milieu Barth syndrome, Coenzyme Q deficiency
Mitochondrial motility Spastic paraplegia 4
Metal metabolism Friedreich ataxia
mtDNA, mitochondrial DNA.

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Jul 27, 2016 | Posted by in NEUROLOGY | Comments Off on Mitochondrial Diseases with Mutations of Nuclear DNA

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