Korean J Med.  1997 Jul;53(1):133-139.

A Case of Insulin: dependent Diabetes Mellitus Carrying the 3243 bp tRNALUR(UUR)-- Point Mutation of Mitochondrial DNA

• Park HW
• Kim WH
• Kim HJ
• Kim WB
• Kim SK
• Shin CS
• Lee HK
• Cheong HI

Abstract

We describe a case of insulin-dependent diabetes mellitus(lDDM) with a mutation at nucleotide 3243 of mitochondrial DNA. A 24-years-old female presented with recurrent episodes of generalised tonic clonic seizures, cognitive decline, short stature, bilateral sensory neural hearing loss, bilateral optic neuropathy, lactic acidosis, and basal ganglia calcifications in addition to IDDM. Maternal transmission of the disease was suggested, by the fact that her mother have died of diabetic complications of the age of 50. Heteroplasmy of wild type and mutant mitochondrial DNA derived from peripheral leucocytes was detected by Apa I digestion of the polymerase chain reaction products amplified with a set of primer for tBNALUR(UUR) Adenosin-to guanidine substitution, occurring at nucleotide position 3243 in tRNALUR(UUR) gene in comparison with reference sequences was confirmed.

Keyword

MELAS; Diabetes mellitus; Poin mutation; Mitochondrial tRNALeu(UUR) gene

MeSH Terms

Acidosis, Lactic
Basal Ganglia
Diabetes Complications
Diabetes Mellitus*
Diabetes Mellitus, Type 1
Digestion
DNA, Mitochondrial*
Female
Guanidine
Hearing Loss, Bilateral
Humans
Insulin*
MELAS Syndrome
Mothers
Optic Nerve Diseases
Point Mutation*
Polymerase Chain Reaction
Seizures
DNA, Mitochondrial
Guanidine
Insulin