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NA13741 DNA from LCL

Description:

LEIGH SYNDROME; LS
ATP SYNTHASE 6; MTATP6

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Class Disorders of the Mitochondrial Genome
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Other
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Chronic metabolic acidosis; muscle OXPHOS studies showed marked instability of mitochondrial inner membrane; 3 affected generations in pedigree; heteroplasmic for the MTATP6*NARP8993 [8993T>G; Leu156Arg (L156R)] mutation; approximately 95% of mtDNA is mutant

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Gene MTATP6
Chromosomal Location NA
Allelic Variant 1 516060.0001; LEIGH SYNDROME
Identified Mutation LEU156ARG; Holt et al. [Am. J. Hum. Genet. 46: 428 (1990)] found a heteroplasmic T-to-G transversion at nucleotide pair 8993 in a maternal pedigree which resulted in the change of a hydrophobic leucine to a hydrophilic arginine at position 156 in subunit 6 of mitochondrial H(+)-ATPase. The clinical symptoms varied in proportion to the percentage of mutant mtDNAs but the most common clinical presentation included neurogenic muscle weakness, ataxia, and retinitis pigmentosa, leading to the designation of NARP (551500). The insertion of an arginine in the hydrophobic sequence of ATPase 6 probably interferes with the hydrogen ion channel formed by subunits 6 and 9 of the ATPase, thus causing failure of ATP synthesis. Tatuch et al. [Am. J. Hum. Genet. 50: 852 (1992)] and Shoffner et al. [Neurology 42: 2168 (1992)] demonstrated that the nucleotide 8993 mutation can cause Leigh disease.

Phenotypic Data

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Remarks Chronic metabolic acidosis; muscle OXPHOS studies showed marked instability of mitochondrial inner membrane; 3 affected generations in pedigree; heteroplasmic for the MTATP6*NARP8993 [8993T>G; Leu156Arg (L156R)] mutation; approximately 95% of mtDNA is mutant

Publications

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Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023
PubMed ID: 38524212
 
Chin RM, Panavas T, Brown JM, Johnson KK, Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery BMC research notes11:205 2018
PubMed ID: 29587845
 
Trounce I, Neill S, Wallace DC, Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A91:8334-8 1994
PubMed ID: 8078883
 
Ortiz RG, Newman NJ, Shoffner JM, Kaufman AE, Koontz DA, Wallace DC, Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol111:1525-30 1993
PubMed ID: 8240109

External Links

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dbSNP dbSNP ID: 11873
Gene Cards MT-ATP6
MTATP6
Gene Ontology GO:0000276 proton-transporting ATP synthase complex, coupling factor F(o) (sensu Eukarya)
GO:0005739 mitochondrion
GO:0015078 hydrogen ion transporter activity
GO:0015986 ATP synthesis coupled proton transport
GO:0015992 proton transport
GO:0016469 proton-transporting two-sector ATPase complex
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
NCBI Gene Gene ID:4508
NCBI GTR 256000 LEIGH SYNDROME; LS
516060 ATP SYNTHASE 6; MTATP6
OMIM 256000 LEIGH SYNDROME; LS
516060 ATP SYNTHASE 6; MTATP6
Omim Description LEIGH SYNDROME
  NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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