Ann Neurol. 2008 Mar;63(3):405-8.

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O.

Source

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem.

Abstract

Complex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders. Using homozygosity mapping, we identified a splice-site mutation in the NDUFA11 gene in six patients from three unrelated families. The patients presented with encephalocardiomyopathy or fatal infantile lactic acidemia. The mutation is predicted to abolish the first transmembrane domain of the gene product, thereby destabilizing the enzymatic complex. Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy.

PMID:: 18306244; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Leigh Syndrome - Genetic Alliance

Supplemental Content

Save items

Related citations in PubMed

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. [J Med Genet. 2007]
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. J Med Genet. 2007 Apr; 44(4):e74.
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. [Am J Med Genet A. 2007]
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. Am J Med Genet A. 2007 Jan 1; 143(1):33-41.
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. [Mol Genet Metab. 2008]
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. Mol Genet Metab. 2008 Aug; 94(4):485-90. Epub 2008 May 20.
Review Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. [Neurology. 2004]
Review Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Procaccio V, Wallace DC. Neurology. 2004 May 25; 62(10):1899-901.
Review A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. [Hum Mutat. 2005]
Review A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP. Hum Mutat. 2005 Mar; 25(3):323-4.

See reviews... See all...

Cited by 8 PubMed Central articles

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. [PLoS Biol. 2012]
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, et al. PLoS Biol. 2012 Mar; 10(3):e1001288. Epub 2012 Mar 20.
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. [Eur J Hum Genet. 2011]
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Eur J Hum Genet. 2011 Mar; 19(3):270-4. Epub 2010 Dec 8.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. [Brain. 2010]
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, et al. Brain. 2010 Oct; 133(10):2952-63. Epub 2010 Sep 6.

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
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
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 (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
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.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
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.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
Ann Neurol. 2008 Mar ;63(3):405-8.

PubMed
Racial disparities in infant mortality: a quality of care perspective.
Racial disparities in infant mortality: a quality of care perspective.
Mt Sinai J Med. 2008 Jan-Feb ;75(1):31-5.

PubMed
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generati...
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Ann Neurol. 2008 Apr ;63(4):473-81.

PubMed
Dysferlin-deficient muscular dystrophy features amyloidosis.
Dysferlin-deficient muscular dystrophy features amyloidosis.
Ann Neurol. 2008 Mar ;63(3):323-8.

PubMed
Peripheral vascular applications of the Amplatzer vascular plug.
Peripheral vascular applications of the Amplatzer vascular plug.
Diagn Interv Radiol. 2008 Mar ;14(1):35-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

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 8 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information