RGD Reference Report - Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. - Rat Genome Database

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Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.

Authors: Hofmann, S  Bezold, R  Jaksch, M  Kaufhold, P  Obermaier-Kusser, B  Gerbitz, KD 
Citation: Hofmann S, etal., Mol Cell Biochem. 1997 Sep;174(1-2):209-13.
RGD ID: 5490247
Pubmed: PMID:9309689   (View Abstract at PubMed)

Wolfram or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome, which has long been known as an autosomal-recessive disorder, has recently been proposed to be a mitochondrial-mediated disease with either a nuclear or a mitochondrial genetic background. The phenotypic characteristics of the syndrome resemble those found in other mitochondrial (mt)DNA mediated disorders such as Leber's hereditary optic neuropathy (LHON) or maternally inherited diabetes and deafness (MIDD). Therefore, we looked for respective mtDNA alterations in blood samples from 7 patients with DIDMOAD syndrome using SSCP-analysis of PCR-amplified fragments, encompassing all mitochondrial ND and tRNA genes, followed by direct sequencing. Subsequently, we compared mtDNA variants identified in this disease group with those detected in a group of LHON patients (n = 17) and in a group of 69 healthy controls. We found that 4/7 (57%) DIDMOAD patients harbored a specific set of point mutations in tRNA and ND genes including the so-called class II or secondary LHON mutations at nucleotide positions (nps) 4216 and 4917 (haplogroup B). In contrast, LHON-patients were frequently (10/17, 59%) found in association with another cluster of mtDNA variants including the secondary LHON mutations at nps 4216 and 13708 and further mtDNA polymorphisms in ND genes (haplogroup A), overlapping with haplogroup B only by variants at nps 4216 and 11251. The frequencies of both haplogroups were significantly lower in the control group versus the respective disease groups. We propose that haplogroup B represents a susceptibility factor for DIDMOAD which, by interaction with further exogeneous or genetic factors, might increase the risk for disease.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MT-ND1HumanWolfram syndrome  IAGP DNA:snp:cds:m.4216T>C (human)RGD 
Mt-nd1RatWolfram syndrome  ISORGD:1349540DNA:snp:cds:m.4216T>C (human)RGD 
mt-Nd1MouseWolfram syndrome  ISORGD:1349540DNA:snp:cds:m.4216T>C (human)RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MT-ND1HumanHyperglycemia  IAGP DNA:snp:cds:m.4216T>CRGD 
MT-ND1HumanOptic atrophy  IAGP DNA:snp:cds:m.4216T>CRGD 
MT-ND1HumanSensorineural hearing impairment  IAGP DNA:snp:cds:m.4216T>CRGD 

Genes (Rattus norvegicus)
Mt-nd1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)

Genes (Mus musculus)
mt-Nd1  (NADH dehydrogenase 1, mitochondrial)

Genes (Homo sapiens)
MT-ND1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)