uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
MtDNA mutations in maternally inherited diabetes: presence of the 3397 ND1 mutation previously associated with Alzheimer's and Parkinson's disease
Show others and affiliations
2001 (English)In: Hereditas, ISSN 0018-0661, Vol. 135, no 1, 65-70 p.Article in journal (Refereed) Published
Abstract [en]

Mutations in the mitochondrial tRNA(leu) (UUR) gene have been associated with diabetes mellitus and deafness. We screened for the presence of mtDNA mutations in the tRNA(leu) (UUR) gene and adjacent ND1 sequences in 12 diabetes mellitus pedigrees with a possible maternal inheritance of the disease. One patient carried a G to A substitution at nt 3243 (tRNA(leu) (UUR) gene) in heteroplasmic state. In a second pedigree a patient had an A to G substitution at nt 3397 in the ND1 gene. All maternal relatives of the proband had the 3397 substitution in homoplasmic state. This substitution was not present in 246 nonsymptomatic Caucasian controls. The 3397 substitution changes a highly conserved methionine to a valine at aa 31 and has previously been found in Alzheimer's (AD) and Parkinson's (PD) disease patients. Substitutions in the mitochondrial ND1 gene at aa 30 and 31 have associated with a number of different diseases (e.g. AD/PD, MELAS, cardiomyopathy and diabetes mellitus, LHON, Wolfram-syndrome and maternal inherited diabetes) suggesting that changes at these two codons may be associated with very diverse pathogenic processes. In a further attempt to search for mtDNA mutations outside the tRNAleu gene associated with diabetes, the whole mtDNA genome sequence was determined for two patients with maternally inherited diabetes and deafness. Except for substitutions previously reported as polymorphisms, none of the two patients showed any non-synonymous substitutions either in homoplasmic or heteroplasmic state. These results imply that the maternal inherited diabetes and deafness in these patients must result from alterations of nuclear genes and/or environmental factors.

Place, publisher, year, edition, pages
2001. Vol. 135, no 1, 65-70 p.
Keyword [en]
Alzheimer Disease/*genetics, DNA; Mitochondrial, Diabetes Mellitus/*genetics, Female, Humans, Insect Proteins/*genetics, Male, Mothers, Mutation, NADH Dehydrogenase, Parkinson Disease/*genetics, Pedigree, RNA; Transfer; Leu/metabolism, Research Support; Non-U.S. Gov't
National Category
Neurosciences Genetics
URN: urn:nbn:se:uu:diva-72476PubMedID: 12035616OAI: oai:DiVA.org:uu-72476DiVA: diva2:100387
Available from: 2005-05-24 Created: 2005-05-24Bibliographically approved

Open Access in DiVA

No full text

Other links


Search in DiVA

By author/editor
Lindholm, EvaJazin, Elena
By organisation
Evolutionary Biology
In the same journal

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 174 hits
ReferencesLink to record
Permanent link

Direct link