Mitochondrial diabetes mellitus

Journal of Endocrinological Investigation

Volumn 25, Issue 5, 2002, Pages 477-484

  Maassen, J A ^a   Janssen, G M C ^a   Lemkes, H H J P ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

3243; Deafness; Diabetes; MIDD; Mitochondrion; mtDNA; Mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINE OXIDASE (FLAVIN CONTAINING); CALCIUM ION; CIRCULAR DNA; CITRIC ACID; INSULIN; IRON; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; THIOCTIC ACID; UBIDECARENONE;

CALCIUM SIGNALING; CELL FUNCTION; CITRIC ACID CYCLE; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); CYTOSOL; DEREGULATION; DIABETES MELLITUS; DIAGNOSTIC TEST; DISEASE COURSE; DISEASE MARKER; GENE MUTATION; GENETIC CODE; HUMAN; METABOLIC REGULATION; METABOLITE; MITOCHONDRIAL DIABETES MELLITUS; MITOCHONDRIAL GENETICS; MITOCHONDRION; MOLECULE; OXIDATION; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; RESPIRATORY CHAIN; REVIEW; SIGNAL TRANSDUCTION; GENE FREQUENCY; GENETICS; MUTATION; PHYSIOLOGY;

DIABETES MELLITUS; DNA, MITOCHONDRIAL; GENE FREQUENCY; HUMANS; MUTATION; PHENOTYPE;

EID: 0036013913     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03344042     Document Type: Review

References (69)

1. Mitochondrial diseases in man and mouse
2. Sequence and organization of the human mitochondrial genome
3. Molecular basis of mitochondrial DNA disease
4. A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
5. Role of mitochondrial calcium in metabolism-secretion coupling in nutrient-stimulated insulin release
6. PPARalpha and PPARgamma activators direct a distinct tissue-specific transcriptional response via a PPRE in the lipoprotein lipase gene
7. Evidence for mitochondrial DNA recombination in a human population of Island Melanesia
8. Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria
9. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
10. Detection of mitochondrial DNA deletions in human skin fibroblasts of patients with Pearsods' syndrome by two-color fluorescence in situ hybridization
11. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
12. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
13. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
14. Role of mitochondria in oxidative stress and ageing
15. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
16. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
17. Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological and biochemical characterisation of a mitochondrial DNA disease
18. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
19. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
20. Mitochondrial DNA mutations in diseases of energy metabolism
21. Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNA Leu(UUR) gene mutation
22. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
23. Maternally inherited diabetes and deafness: A new diabetes subtype
24. Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus
25. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes: Prevalence of the mutation in an adult population
26. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
27. Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease
28. Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA
29. Renal failure from mitochondrial cytopathies
30. Maternally inherited diabetes and deafness: A multicenter study
31. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
32. Pearson's Marrow-Pancreas syndrome. A multisystem mitochondrial disorder in infancy
33. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson Marrow-Pancreas Syndrome
34. Importance of maternal history of non-insulin dependent diabetic patients
35. On possible genetic and epigenetic modes of diabetes transmission
36. The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate
37. The MELAS Syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
38. Clinical and laboratory characteristics in the families with diabetes and a mitochondrial tRNA(Leu(UUR)) gene mutation
39. Insulin resistance in mitochondrial gene mutation
40. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
41. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics
42. Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243
43. HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness
44. Diabetes mellitus associated with the 3243 mitochondrial tRNA(Leu)(UUR) mutation: Insulin secretion and sensitivity
45. Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN6
46. Ethidium bromide-induced inhibition of mitochondrial gene transcription suppresses glucose-stimulated insulin release in the mouse pancreatic beta-cell line BetaHC9
47. Non random tissue distribution of mutant mtDNA
48. High prevalence of mitochondrial diabetes mellitus in Japanese patients with major risk factors
49. Prevalence of maternally inherited diabetes and deafness in diabetic populations in The Netherlands
50. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
51. The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation
52. (R)-alpha-lipoic acid reverses the age-associated increase in susceptibility of hepatocytes to tert-butylhydroperoxide both in vitro and in vivo
53. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G
54. Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with non-insulin-dependent diabetes mellitus
55. Functional and molecular mitochondrial abnormalities associated with a C→T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing
56. Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation
57. A Caucasian family with the 3271 mutation in mitochondrial DNA
58. Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes
59. A G-to-A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus
60. Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent-diabetes mellitus
61. Mitochondrial gene mutations in gestational diabetes mellitus
62. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys)
63. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation
64. The T-C(8356) mitochondrial DNA mutation in a Japanese family
65. Mitochondrial diabetes: Investigation and identification of a novel mutation
66. A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic factor for maternally inherited type 2 diabetes
67. Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review
68. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
69. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD Syndrome (A3243G Mutation): A case report