Am J Hum Genet. 1990 Mar;46(3):428-33.

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA.

Source

University Department of Clinical Neurology, Institute of Neurology, London, England.

Abstract

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained two populations of mitochondrial DNA, one of which had a previously unreported restriction site for AvaI. Sequence analysis showed that this was due to a point mutation at nucleotide 8993, resulting in an amino acid change from a highly conserved leucine to arginine in subunit 6 of mitochondrial H(+)-ATPase. There was some correlation between clinical severity and the amount of mutant mitochondrial DNA in the patients; this was present in only small quantities in the blood of healthy elderly relatives in the same maternal line.

PMID:: 2137962; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683641

Free PMC Article

LinkOut - more resources

Full Text Sources

Medical

Muscle Disorders - MedlinePlus Health Information

Supplemental Content

Save items

Related citations in PubMed

Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. [Pediatr Res. 1995]
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome.
Mäkelä-Bengs P, Suomalainen A, Majander A, Rapola J, Kalimo H, Nuutila A, Pihko H. Pediatr Res. 1995 May; 37(5):634-9.
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes. [J Child Neurol. 2001]
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
Tsao CY, Mendell JR, Bartholomew D. J Child Neurol. 2001 Jul; 16(7):533-5.
Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. [Br J Ophthalmol. 1993]
Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.
Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C, Caramazza R. Br J Ophthalmol. 1993 Feb; 77(2):84-8.
Review The expanding clinical spectrum of mitochondrial diseases. [Brain Dev. 1993]
Review The expanding clinical spectrum of mitochondrial diseases.
De Vivo DC. Brain Dev. 1993 Jan-Feb; 15(1):1-22.
Review Mitochondrial myopathies. [Br Med Bull. 1989]
Review Mitochondrial myopathies.
Harding AE, Holt IJ. Br Med Bull. 1989 Jul; 45(3):760-71.

See reviews... See all...

Cited by 87 PubMed Central articles

Mitochondrial ATP synthase: architecture, function and pathology. [J Inherit Metab Dis. 2012]
Mitochondrial ATP synthase: architecture, function and pathology.
Jonckheere AI, Smeitink JA, Rodenburg RJ. J Inherit Metab Dis. 2012 Mar; 35(2):211-25. Epub 2011 Aug 27.
Genetic association study of common mitochondrial variants on body fat mass. [PLoS One. 2011]
Genetic association study of common mitochondrial variants on body fat mass.
Yang TL, Guo Y, Shen H, Lei SF, Liu YJ, Li J, Liu YZ, Yu N, Chen J, Xu T, et al. PLoS One. 2011; 6(6):e21595. Epub 2011 Jun 29.
Images of photoreceptors in living primate eyes using adaptive optics two-photon ophthalmoscopy. [Biomed Opt Express. 2010]
Images of photoreceptors in living primate eyes using adaptive optics two-photon ophthalmoscopy.
Hunter JJ, Masella B, Dubra A, Sharma R, Yin L, Merigan WH, Palczewska G, Palczewski K, Williams DR. Biomed Opt Express. 2010 Dec 17; 2(1):139-48. Epub 2010 Dec 17.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Protein Clusters
Clusters of related proteins from the Protein Clusters database that cite the current articles. Sources of references in Protein Clusters include the associated Gene and Conserved Domain records as well as NCBI added citations.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Am J Hum Genet. 1990 Mar ;46(3):428-33.

PubMed
Proteomic analysis of grape berry cell cultures reveals that developmentally reg...
Proteomic analysis of grape berry cell cultures reveals that developmentally regulated ripening related processes can be studied using cultured cells.
PLoS One. 2011 Feb 17 ;6(2):e14708.

PubMed
Genome-wide transcript profiling of endosperm without paternal contribution iden...
Genome-wide transcript profiling of endosperm without paternal contribution identifies parent-of-origin-dependent regulation of AGAMOUS-LIKE36.
PLoS Genet. 2011 Feb ;7(2):e1001303. Epub 2011 Feb 17 .

PubMed
First principles modeling of nonlinear incidence rates in seasonal epidemics.
First principles modeling of nonlinear incidence rates in seasonal epidemics.
PLoS Comput Biol. 2011 Feb ;7(2):e1001079. Epub 2011 Feb 17 .

PubMed
Effect of molecular weight on the lymphatic absorption of water-soluble compound...
Effect of molecular weight on the lymphatic absorption of water-soluble compounds following subcutaneous administration.
Pharm Res. 1990 Feb ;7(2):167-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 87 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information