Search

Your search keyword '"Westeneng H. -J."' showing total 1 results
Start Over Author "Westeneng H. -J." Topic deafness

Refine your results

1 results on '"Westeneng H. -J."'

1. MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level.

Author

de Wit HM, Westeneng HJ, van Engelen BG, and Mudde AH

Subjects
Adult, Deafness diagnosis, Diabetes Mellitus, Type 2 diagnosis, Humans, MELAS Syndrome diagnosis, Male, Mitochondrial Diseases, Phenotype, DNA, Mitochondrial genetics, Deafness genetics, Diabetes Mellitus, Type 2 genetics, Fathers, Genetic Predisposition to Disease, MELAS Syndrome genetics, Point Mutation
Abstract

Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) are different syndromes, but are caused by the same m.3243A>G mutation in mitochondrial DNA. Why some patients develop MIDD while others MELAS is unknown, but may be related to heteroplasmy level. Progression from MIDD to MELAS has not been described. Here we report a patient with MIDD who over time developed severe insulin resistance and symptoms and signs consistent with MELAS. The most likely explanation here was paternal co-inheritance of type 2 diabetes in combination with a high heteroplasmy level. The present case showing evolution of MIDD to MELAS supports the concept that both syndromes can be regarded as two phenotypes of the same disease.

Published
2012

Catalog

Books, media, physical & digital resources
See catalog results