Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy

Journal Article · Fri Jul 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6822661

Kobayashi, Y; Sharpe, H; Brown, N

The authors have investigated the distribution of mutant mtDNA molecules in single cells from a patient with Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease that is characterized by a sudden-onset bilateral loss of central vision, which typically occurs in early adulthood. More than 50% of all LHON patients carry an mtDNA mutation at nucleotide position 11778. This nucleotide change converts a highly conserved arginine residue to histidine at codon 340 in the NADH-ubiquinone oxidoreductase subunit 4 (ND4) gene of mtDNA. In the present study, the authors used PCR amplification of mtDNA from lymphocytes to investigate mtDNA heteroplasmy at the single-cell level in a LHON patient. They found that most cells were either homoplasmic normal or homoplasmic mutant at nucleotide position 11778. Some (16%) cells contained both mutant and normal mtDNA.

• OSTI ID: 6822661
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CELL CONSTITUENTS
DISEASES
DNA SEQUENCING
ENZYMES
EYES
FACE
GENE AMPLIFICATION
GENE MUTATIONS
HEAD
HEREDITARY DISEASES
MITOCHONDRIA
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
OXIDOREDUCTASES
POLYMERASE CHAIN REACTION
PROTEINS
SENSE ORGANS
STRUCTURAL CHEMICAL ANALYSIS