Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus

1999 ◽  
Vol 36 (3) ◽  
pp. 163-167 ◽  
Author(s):  
L. Rigoli ◽  
D.C. Salpietro ◽  
R.A. Caruso ◽  
A. Chiarenza ◽  
I. Barberi
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Inherited Diabetes

scholarly journals Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

2017 ◽  
Vol 30 (7-8) ◽  
pp. 581 ◽  
Author(s):  
Daniela Alves ◽  
Maria Eufémia Calmeiro ◽  
Carmo Macário ◽  
Rosa Silva
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Diagnostic Challenge ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
History Of ◽  
Monogenic Forms Of Diabetes ◽  
Inherited Diabetes ◽  
Relevant Family History

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient’s mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness

2000 ◽  
Vol 17 (12) ◽  
pp. 841-847 ◽  
Author(s):  
E. H. R. van Essen ◽  
B. O. Roep ◽  
L. M. 't Hart ◽  
J. J. Jansen ◽  
J. M. W. Van den Ouweland ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Hla Dq ◽  
Inherited Diabetes

scholarly journals The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

2001 ◽  
Vol 9 (4) ◽  
pp. 311-315 ◽  
Author(s):  
Maurizia Grasso ◽  
Marta Diegoli ◽  
Agnese Brega ◽  
Carlo Campana ◽  
Luigi Tavazzi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dilated Cardiomyopathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation
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