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jtitle_s:("Acta mol")
1.  Mitochondrial disorders of the nuclear genome 
Acta Myologica  2009;28(1):16-23.
Summary
Background.
Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance.
Results.
Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene.
Conclusions.
Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.
PMCID: PMC2859630  PMID: 19772191
SURF1; ataxia; optic atrophy

Results 1-2 (2)