Literature DB >> 9541117

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.

R L Albin1.   

Abstract

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial defects could be the cause of Fuch's endothelial dystrophy.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9541117      PMCID： PMC1051256          DOI： 10.1136/jmg.35.3.258

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.

Authors:  A E Harding; M G Sweeney; D H Miller; C J Mumford; H Kellar-Wood; D Menard; W I McDonald; D A Compston
Journal:  Brain       Date:  1992-08       Impact factor: 13.501

2.  ATPase pump site density in human dysfunctional corneal endothelium.

Authors:  M D McCartney; D P Robertson; T O Wood; B J McLaughlin
Journal:  Invest Ophthalmol Vis Sci       Date:  1987-12       Impact factor: 4.799

3.  A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.

Authors:  D C Wallace
Journal:  Brain       Date:  1970       Impact factor: 13.501

4.  Cytochrome oxidase activity of Fuchs' endothelial dystrophy.

Authors:  A W Tuberville; T O Wood; B J McLaughlin
Journal:  Curr Eye Res       Date:  1986-12       Impact factor: 2.424

5.  Association of the 11778 mitochondrial DNA mutation and demyelinating disease.

Authors:  K M Flanigan; D R Johns
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910
  5 in total
  10 in total

1.  A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.

Authors:  Satoko Shimizu; Charles Krafchak; Nobuo Fuse; Michael P Epstein; Miriam T Schteingart; Alan Sugar; Maya Eibschitz-Tsimhoni; Catherine A Downs; Frank Rozsa; Edward H Trager; David M Reed; Michael Boehnke; Sayoko E Moroi; Julia E Richards
Journal:  Am J Med Genet A       Date:  2004-11-01       Impact factor: 2.802

2.  Mitochondrial DNA mutations and pathogenicity.

Authors:  P F Chinnery; D M Turnbull; N Howell; R M Andrews
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 3.  The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Authors:  Jie Zhang; Charles N J McGhee; Dipika V Patel
Journal:  Mol Diagn Ther       Date:  2019-02       Impact factor: 4.074

4.  Fuchs' corneal dystrophy.

Authors:  Allen O Eghrari; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2010-04

5.  The genetics of Fuchs' corneal dystrophy.

Authors:  Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2012-08

6.  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

7.  Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Authors:  Yi-Ju Li; Mollie A Minear; Xuejun Qin; Jacqueline Rimmler; Michael A Hauser; R Rand Allingham; Robert P Igo; Jonathan H Lass; Sudha K Iyengar; Gordon K Klintworth; Natalie A Afshari; Simon G Gregory
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-06-10       Impact factor: 4.799

8.  The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis.

Authors:  Martine Uittenbogaard; Christine A Brantner; ZiShui Fang; Lee-Jun Wong; Andrea Gropman; Anne Chiaramello
Journal:  Mitochondrion       Date:  2018-06-08       Impact factor: 4.160

9.  Identifying the Basal Ganglia network model markers for medication-induced impulsivity in Parkinson's disease patients.

Authors:  Pragathi Priyadharsini Balasubramani; V Srinivasa Chakravarthy; Manal Ali; Balaraman Ravindran; Ahmed A Moustafa
Journal:  PLoS One       Date:  2015-06-04       Impact factor: 3.240

Review 10.  Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Authors:  Stephan Ong Tone; Viridiana Kocaba; Myriam Böhm; Adam Wylegala; Tomas L White; Ula V Jurkunas
Journal:  Prog Retin Eye Res       Date:  2020-05-08       Impact factor: 21.198
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.