Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle.

Yamagata K, Takeda J, Menzel S, Chen X, Eng S, Lim LR, Concannon P, Hanis CL, Spielman RS, Cox NJ, Bell GI
Diabetologia. 1996 39 (6): 725-30

PMID: 8781769 · DOI:10.1007/BF00418545

The expansion of trinucleotide repeats has been associated with late-onset neurodegenerative disorders. Although the genes harbouring the triplet expansions may be widely expressed, the pathological expression of these diseases is restricted to specific tissues. Non-insulin-dependent diabetes mellitus (NIDDM) shares several features with diseases resulting from such dynamic mutations including late-onset and specific but limited sites of tissue pathology-muscle, fat, liver and insulin-secreting pancreatic beta cells. In order to examine the contribution of genes containing polymorphic CAG/CTG repeats to the development of NIDDM, we screened an adult human skeletal muscle cDNA library for expressed sequences containing tandem repeats of CAG and/ or CTG. Ten different loci with polymorphic CAG/ CTG repeats were identified, of which seven had a heterozygosity greater than 0.20. There was no evidence for linkage between these seven loci and NIDDM in a group of affected Mexican-American sib pairs. Nor was there a significant difference in the distribution of alleles between Caucasian patients with NIDDM and normal healthy control subjects or evidence for repeat expansion in diabetic subjects. Thus, muscle genes with polymorphic CAG/CTG repeats do not appear to play a significant role in the development of NIDDM.

MeSH Terms (23)

Adult African Continental Ancestry Group Alleles Base Sequence Chromosome Mapping Diabetes Mellitus, Type 2 Disease Susceptibility DNA, Recombinant DNA Primers European Continental Ancestry Group Female Gene Library Genetic Linkage Genetic Markers Heterozygote Humans Infant, Newborn Mexican Americans Muscle, Skeletal Polymerase Chain Reaction Polymorphism, Genetic Proteins Trinucleotide Repeats

Connections (1)

This publication is referenced by other Labnodes entities: