GM11605

GM11605 LCL from B-Lymphocyte

Description:

LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND1; MTND1

Affected:

Yes

Sex:

Female

Age:

40 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Mitochondrial Genome

Class

Ophthalmologic Disorders

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

FINNISH

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Peripapillary microangiopathy; G>A base mutation at nucleotide 3460 (3460G>A) in the MTND1 [NADH-ubiquinone oxidoreductase subunit 1 (ND1) mtDNA] gene; the mutation converts an Ala to a Thr at codon 52 of the gene [Ala52Thr (A52T)] and abolishes an Aha II restriction site

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

MTND1

Chromosomal Location

Allelic Variant 1

516000.0001; LEBER OPTIC ATROPHY

Identified Mutation

LHON3460A; This mutation converts the modestly conserved alanine at 52 to a threonine (A52T). It is sufficient by itself to cause LHON, is found in about 15% of Caucasian patients but not controls, has arisen on a variety of genetic backgrounds, can be heteroplasmic, results in vision loss in 14 to 40% of maternal relatives and 33 to 67% of males.

Phenotypic Data

Remarks

Publications

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

Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders The Journal of molecular diagnostics : JMD11:205 2013

PubMed ID: 23665194

Danielson SR, Carelli V, Tan G, Martinuzzi A, Schapira AH, Savontaus ML, Cortopassi GA, Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process Brain : a journal of neurology128:1026-37 2005

PubMed ID: 15728653

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet48:1147-53 1991

PubMed ID: 1674640