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

R. Lodi, V. Carelli, P. Cortelli, S. Iotti, M. L. Valentino, P. Barboni, F. Pallotti, P. Montagna, B. Barbiroli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)805-807
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume72
Issue number6
DOIs
Publication statusPublished - 2002

Fingerprint

Leber's Hereditary Optic Atrophy
Mitochondrial DNA
Phosphorus
Magnetic Resonance Spectroscopy
Energy Metabolism
Mutation
Occipital Lobe
Muscles
Oxidative Phosphorylation
Tissue Distribution
Siblings
Mothers
Brain
Genes

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. / Lodi, R.; Carelli, V.; Cortelli, P.; Iotti, S.; Valentino, M. L.; Barboni, P.; Pallotti, F.; Montagna, P.; Barbiroli, B.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 72, No. 6, 2002, p. 805-807.

Research output: Contribution to journalArticle

@article{b685456012954dc5949c786a7d8fe03e,
title = "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.",
author = "R. Lodi and V. Carelli and P. Cortelli and S. Iotti and Valentino, {M. L.} and P. Barboni and F. Pallotti and P. Montagna and B. Barbiroli",
year = "2002",
doi = "10.1136/jnnp.72.6.805",
language = "English",
volume = "72",
pages = "805--807",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "BMJ Publishing Group",
number = "6",

}

TY - JOUR

T1 - Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

AU - Lodi, R.

AU - Carelli, V.

AU - Cortelli, P.

AU - Iotti, S.

AU - Valentino, M. L.

AU - Barboni, P.

AU - Pallotti, F.

AU - Montagna, P.

AU - Barbiroli, B.

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0036259160&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036259160&partnerID=8YFLogxK

U2 - 10.1136/jnnp.72.6.805

DO - 10.1136/jnnp.72.6.805

M3 - Article

C2 - 12023431

AN - SCOPUS:0036259160

VL - 72

SP - 805

EP - 807

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - 6

ER -