Literature DB >> 8777986

Maternally inherited diabetes and deafness: a new diabetes subtype.

J A Maassen1, T Kadowaki.   

Abstract

Diabetes mellitus is a common disease with many forms of clinical expression. In addition, the development of diabetic complications is not only dependent on glycaemic control but also on individual factors which may be related to genetic heterogeneity. At present, multiple genetic factors are being recognized as contributing to the development of diabetes or possibly modulating its clinical expression. The purpose of this review is to give an overview of our current knowledge on a subtype of diabetes which is apparently caused by a single mutation in the mitochondrial DNA.

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Year:  1996        PMID： 8777986     DOI： 10.1007/bf00400668

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


  49 in total

Review 1.  Mitochondrial DNA mutations in human degenerative diseases and aging.

Authors:  D C Wallace; J M Shoffner; I Trounce; M D Brown; S W Ballinger; M Corral-Debrinski; T Horton; A S Jun; M T Lott
Journal:  Biochim Biophys Acta       Date:  1995-05-24

2.  Noninvasive diagnosis of the MELAS syndrome from blood DNA.

Authors:  J Poulton; K Morten
Journal:  Ann Neurol       Date:  1993-07       Impact factor: 10.422

3.  Mild familial diabetes with dominant inheritance.

Authors:  R B Tattersall
Journal:  Q J Med       Date:  1974-04

4.  Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.

Authors:  L M 't Hart; J J Jansen; H H Lemkes; P de Knijff; J A Maassen
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

5.  Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Authors:  A Rötig; J L Bessis; N Romero; V Cormier; J M Saudubray; P Narcy; G Lenoir; P Rustin; A Munnich
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

6.  Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.

Authors:  Y Tanizawa; L I Koranyi; C M Welling; M A Permutt
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-15       Impact factor: 11.205

7.  Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Authors:  J M van den Ouweland; H H Lemkes; R C Trembath; R Ross; G Velho; D Cohen; P Froguel; J A Maassen
Journal:  Diabetes       Date:  1994-06       Impact factor: 9.461

Review 8.  Mitochondrial DNA mutations in diseases of energy metabolism.

Authors:  D C Wallace
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

9.  A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

Authors:  M P Klinkhamer; N A Groen; G C van der Zon; D Lindhout; L A Sandkuyl; H M Krans; W Möller; J A Maassen
Journal:  EMBO J       Date:  1989-09       Impact factor: 11.598

10.  An autosomal locus predisposing to deletions of mitochondrial DNA.

Authors:  A Suomalainen; J Kaukonen; P Amati; R Timonen; M Haltia; J Weissenbach; M Zeviani; H Somer; L Peltonen
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330
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  25 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

2.  A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians.

Authors:  Frances Busfield; David L Duffy; Janine B Kesting; Shelley M Walker; Paul K Lovelock; David Good; Heather Tate; Denise Watego; Maureen Marczak; Noel Hayman; Joanne T E Shaw
Journal:  Am J Hum Genet       Date:  2001-12-12       Impact factor: 11.025

3.  Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification.

Authors:  Ji-Hoon Kang; Sa-Yoon Kang; Jay-Chol Choi; Seong-Suk Lee; Ji-Soo Kim
Journal:  J Neurol       Date:  2005-01       Impact factor: 4.849

4.  Association of the insulin-receptor variant Met-985 with hyperglycemia and non-insulin-dependent diabetes mellitus in the Netherlands: a population-based study.

Authors:  L M Hart; R P Stolk; R J Heine; D E Grobbee; F E van der Does; J A Maassen
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

Review 5.  Advances in childhood onset diabetes.

Authors:  J P Shield; J D Baum
Journal:  Arch Dis Child       Date:  1998-04       Impact factor: 3.791

6.  Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line.

Authors:  H Wang; P Maechler; K A Hagenfeldt; C B Wollheim
Journal:  EMBO J       Date:  1998-11-16       Impact factor: 11.598

7.  Mitochondrial A3243G mutation results in corneal endothelial polymegathism.

Authors:  Mathieu F Bakhoum; Wei-Pu Wu; Eugenia C White; Jesse D Sengillo; Christian Sanfilippo; Marcelle M Morcos; K Bailey Freund; Henry D Perry; David Sarraf; Stephen H Tsang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-01-29       Impact factor: 3.117

Review 8.  Control of glycaemia: from molecules to men. Minkowski Lecture 2003.

Authors:  M Stumvoll
Journal:  Diabetologia       Date:  2004-04-28       Impact factor: 10.122

Review 9.  The genetics and pathophysiology of diabetes mellitus type II.

Authors:  A B Jenkins; L V Campbell
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

10.  Molecular and metabolic evidence for mitochondrial defects associated with beta-cell dysfunction in a mouse model of type 2 diabetes.

Authors:  Hongfang Lu; Vasilij Koshkin; Emma M Allister; Armen V Gyulkhandanyan; Michael B Wheeler
Journal:  Diabetes       Date:  2009-11-10       Impact factor: 9.461
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