Literature DB >> 9541116

Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.

H Onishi1, T Hanihara, N Sugiyama, C Kawanishi, E Iseki, Y Maruyama, Y Yamada, K Kosaka, S Yagishita, H Sekihara, S Satoh.   

Abstract

We report on pancreatic exocrine dysfunction in families that have the mitochondrial tRNA(Leu)(UUR) gene mutation. These families exhibited maternally inherited diabetes mellitus (DM) and an A to G substitution at nt 3243 of the mitochondrial tRNA(Leu)(UUR) gene (A3243G mutation). Pancreatic necropsy samples from one proband showed accumulation of degenerated mitochondria in pancreatic acinar cells. Pancreatic exocrine dysfunction was recognised by a functional pancreatic study. This study indicates that exocrine pancreatic dysfunction may be associated with the A3243G mutation.

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Year:  1998        PMID： 9541116      PMCID： PMC1051255          DOI： 10.1136/jmg.35.3.255

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


  12 in total

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  5 in total

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