A patient with diabetes mellitus, cardiomyopathy, and a mitochondrial gene mutation: confirmation of a gene mutation in cardiac muscle

Haruko Kitaoka, Keiichi Kameoka, Yuri Suzuki, Eun Sasaki, Motoko Majima, Kiyoshi Takada, Hideki Katagiri, Yoshitomo Oka, Nakaaki Ohsawa

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

A 44-year-old woman with diabetes mellitus, cardiomyopathy, and a mitochondrial gene mutation, was reported. She was diagnosed as having diabetes at 33 years of age and was treated with insulin. However, she stopped treatment 6 months later and had no medical care until she developed diabetic ketoacidosis at 41 years of age. She had diabetic foot, diabetic retinopathy, and nephropathy with low insulin secretory capacity, leading to insulin treatment. A point mutation of the mitochondrial tRNALeu(UUR) gene was identified in peripheral leukocytes at 43 years of age, and sensorineural hearing impairment was detected at the same time. Her mother also suffered from diabetes mellitus with deafness and her son, who was not diabetic at age 19, had the same mitochondrial DNA (mtDNA) mutation. At 44 years of age, she developed congestive heart failure due to cardiomyopathy, and the same mtDNA mutation was identified in the cardiac muscle. Thus, it is very likely that in this patient, diabetes and cardiomyopathy was caused by the same abnormality, the point mutation of mitochondrial tRNALeu(UUR) gene.

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalDiabetes Research and Clinical Practice
Volume28
Issue number3
DOIs
Publication statusPublished - 1995 Jun
Externally publishedYes

Keywords

  • Cardiomyopathy
  • Deafness
  • Diabetes mellitus
  • MELAS
  • Mitochondrial DNA mutation

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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