Mitochondrial disorders of the nuclear genome.

Abstract

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.

• Authors: C Angelini, L Bello, M Spinazzi, C Ferrati
• Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (Acta Myol) Vol. 28 Issue 1 Pg. 16-23 (Jul 2009) ISSN: 1128-2460 [Print] Italy
• PMID: 19772191 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• Mitochondrial Proteins
• Surf-1 protein
• Ubiquinone
• DNA
• Prostaglandin-Endoperoxide Synthases
• GTP Phosphohydrolases
• OPA1 protein, human

Topics

• Cell Nucleus
• Child
• DNA (genetics)
• Female
• GTP Phosphohydrolases (genetics)
• Genome (genetics)
• Humans
• Infant
• Leigh Disease (diagnosis, genetics)
• Male
• Membrane Proteins (genetics)
• Middle Aged
• Mitochondrial Diseases (diagnosis, genetics)
• Mitochondrial Proteins (genetics)
• Mutation (genetics)
• Optic Atrophy (diagnosis, genetics)
• Prostaglandin-Endoperoxide Synthases (deficiency, genetics)
• Ubiquinone (genetics)