Best Practice & Research Clinical Endocrinology & Metabolism
Regular ArticleMitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes
References (98)
- et al.
Diabetes secondary to genetic disorders
Bailliere's Clinical Endocrinology and Metabolism
(1992) - et al.
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation
Ophthalmology
(1999) - et al.
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
Lancet
(1992) - et al.
Melas: an original case and clinical criteria for diagnosis
Neuromuscular Disorders
(1992) - et al.
Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-G) associated with diabetes
Biochemical and Biophysical Research Communications
(1998) - et al.
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
Journal of Pediatrics
(1979) - et al.
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
Lancet
(1995) - et al.
Psychiatric findings in Wolfram syndrome homozygotes
Lancet
(1990) - et al.
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
Nature Genetics
(1998) - et al.
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
American Journal of Human Genetics
(1999)
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis
Biochemical and Biophysical Research Communications
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
American Journal of Human Genetics
Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia
Journal of Pediatrics
Thiamine-responsive megaloblastic anemia
Journal of Pediatrics
Thiamine responsive anemia in DIDMOAD syndrome
Journal of Pediatrics
Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: a new syndrome?
Journal of Pediatrics
Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient α-ketoglutarate dehydrogenase activity
Journal of Pediatrics
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
American Journal of Human Genetics
Functional activation of mutant human insulin receptor by monoclonal antibody
Lancet
Alstrom syndrome. Report of 22 cases and literature review
Ophthalmology
Maternally inherited diabetes and deafness: a new diabetes subtype
Diabetologia
UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNALeu(UUR)) mutation at position 3243 bp in UK caucasian type 2 diabetic patients
Diabetic Medicine
Clinical mitochondrial genetics
Journal of Medical Genetics
Mutation in mitochondrial tRNALeu(uur)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
Nature Genetics
Maternally transmitted diabetes and deafness associated with a 10·4 kb mitochondrial DNA deletion
Nature Genetics
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
New England Journal of Medicine
A new point mutation associated with mitochondrial encephalomyopathy
Human Molecular Genetics
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA (Leu(UUR)) gene an etiologic hot spot?
Journal of Clinical Investigation
Clinical picture of a case of diabetes mellitus with mitochondrial tRNA mutation at position 3271
Diabetes Care
Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA [Leu(UUR)] region
Diabetic Medicine
Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNALeu(UUR)region. Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus
Journal of Clinical Endocrinology and Metabolism
A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes
Diabetes
Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases
Archives of Ophthalmology
Are duplications of mitochondrial DNA characteristic of Kearns–Sayre syndrome?
Human Molecular Genetics
Progressive increase of the mutated mitochondrial DNA fraction in Kearns–Sayre syndrome
Pediatric Research
Mitochondria and diabetes
Diabetes
Diabetes mellitus and simple optic atrophy among siblings: report of four cases
Mayo Clinic Proceedings
Optic atrophy in wolfram (DIDMOAD) syndrome
Eye
Genetically programmed selective islet β-cell loss in diabetic subjects with Wolfram's syndrome
Diabetes Care
The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2
Journal of Clinical Endocrinology and Metabolism
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
Nature Genetics
Linkage of Wolfram syndrome to chromosome 4p16·1 and evidence for heterogeneity
American Journal of Human Genetics
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
Human Molecular Genetics
WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
Human Molecular Genetics
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
Journal of Medical Genetics
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
Human Genetics
Autosomal recessive Wolfram syndrome associated with an 8·5-kb mtDNA single deletion
American Journal of Human Genetics
The mitochondrial genome in Wolfram syndrome
Journal of Medical Genetics
Cited by (29)
A Clinical Guide to Monogenic Diabetes
2015, Genetic Diagnosis of Endocrine Disorders: Second EditionDiabetes in pediatric patients with kearns-sayre syndrome: Clinical presentation of 2 cases and a review of pathophysiology
2014, Canadian Journal of DiabetesCitation Excerpt :Generally, tissues with high-energy requirements, such as the brain, heart, liver and skeletal muscle, are most affected by mitochondrial disease. Inherited syndromes involving diabetes are estimated to make up about 5% of children seen in diabetes clinics (1). Diabetes due to mitochondrial disease can result from point mutations (maternally inherited diabetes and deafness, mitochondrial encephalopathy lactic acidosis and strokelike episodes); deletions or rearrangements in mtDNA (such as Kearns Sayre syndrome (KSS) or other deletion syndromes); or nuclear mutations (Wolfram syndrome, thiamine-responsive megaloblastic anemia).
Wolfram's syndrome presenting as a cerebellar ataxia
2007, Revue NeurologiqueComprehensive association testing of common mitochondrial DNA variation in metabolic disease
2006, American Journal of Human GeneticsDifficult diabetes in teenagers
2006, Current PaediatricsFunctional effects of expression of wolframin-antisense transcripts in BRIN-BD11 β-cells
2003, Biochemical and Biophysical Research CommunicationsCitation Excerpt :This protein is a large molecule that has been proposed to reside within the endoplasmic reticulum [11], although it is not clear whether this represents its only site of localisation. Inherited mutations in the molecule have been found in familial cases of Wolfram syndrome [2–7], but it has not proved possible to group these within specific functional domains, suggesting that even relatively minor alterations to the structure of the molecule may exert detrimental effects on cell function [2]. However, the mechanistic link between mutations in wolframin and specific cell dysfunction has not been established.