Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy.

Abstract

Occipital lobe and calf muscle energy metabolism were studied in vivo by magnetic resonance spectroscopy (31P-MRS) in four members of a family harbouring the mitochondrial DNA G3460A mutation causing Leber's hereditary optic neuropathy (LHON). Three siblings carried 100% mutated mitochondrial DNA (homoplasmy), while their mother had coexistence of mutated and wild-type mitochondrial DNA (heteroplasmy). Indices of brain energy metabolism on 31P-MRS were abnormal in all subjects examined, but the muscle oxidative phosphorylation rate was normal. These findings indicate a tissue specific distribution of the biochemical expression of the G3460A LHON mutation and suggest that extramitochondrial factors, such as nuclear genes, may influence expression of this mutation in vivo.

• Authors: R Lodi, V Carelli, P Cortelli, S Iotti, M L Valentino, P Barboni, F Pallotti, P Montagna, B Barbiroli
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 72 Issue 6 Pg. 805-7 (Jun 2002) ISSN: 0022-3050 [Print] England
• PMID: 12023431 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial

Topics

• Adult
• DNA, Mitochondrial (genetics)
• Female
• Gene Expression Regulation
• Humans
• Magnetic Resonance Spectroscopy
• Male
• Middle Aged
• Muscle, Skeletal (physiology)
• Nuclear Family
• Occipital Lobe (physiology)
• Optic Atrophy, Hereditary, Leber (genetics, pathology)
• Oxidative Phosphorylation