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Normal insulin-receptor cDNA sequence in Pima Indians with NIDDM
D E Moller1, A Yokota, J S Flier
1Charles A. Dana Research Institute, Beth Israel Hospital, Boston, Massachusetts 02215.
Diabetes
|November 1, 1989
Summary
Genetic sequencing revealed no defects in the insulin receptor gene of Pima Indians with non-insulin-dependent diabetes mellitus (NIDDM). Observed insulin resistance may stem from other factors interacting with the insulin receptor.
Area of Science:
- Genetics
- Endocrinology
- Metabolic Diseases
Background:
- Pima Indians are a key model for studying non-insulin-dependent diabetes mellitus (NIDDM).
- Inherited insulin resistance is a significant factor in abnormal glucose metabolism within this population.
- The insulin receptor gene is a potential candidate for genetic defects contributing to NIDDM.
Purpose of the Study:
- To investigate potential genetic defects in the insulin receptor gene in Pima Indians with NIDDM.
- To determine if mutations in the insulin receptor are responsible for observed insulin resistance in this population.
Main Methods:
- Insulin receptor cDNA was isolated and sequenced from two Pima Indians with NIDDM.
- Messenger RNA (mRNA) from lymphoblasts was used to generate complementary DNA (cDNA).
- Polymerase chain reaction (PCR) amplified seven overlapping cDNA segments for sequencing.
Main Results:
- The nucleotide sequence of the insulin receptor cDNA in both subjects was identical to published sequences from healthy individuals.
- The complete coding region of the mature proreceptor was analyzed, excluding alternatively spliced exon 11 (not expressed in lymphoblasts).
Conclusions:
- The study found no evidence of genetic defects in the insulin receptor gene in Pima Indians with NIDDM.
- Abnormalities in insulin binding and receptor function may be secondary to the diabetic environment or defects in interacting molecules.