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Genetics of Insulin-Dependent Diabetes Mellitus: Relevance for Practical Biology

Abstract Insulin-dependent diabetes mellitus (type 1) is a polygenic disease with environmental components. Progress in molcular biology has allowed a better understanding of the importance of genetics in this affliction. In practice, this knowledge poses two important questions. On the one hand, can we predict, by using genetic markers, an increased risk in families or in the general population? On the other hand, is it possible to understand better the pathological process of the disease by means of genetic information? Initial information, gained by research into candidate genes, has raised high hopes with the discovery of two important loci. The involvement of the HLA genes has demonstrated the autoimmune character of the disease but does not explain everything. The more recent discovery of the role of the insulin gene allows a more mechanistic explanation. These two loci can be used as predictive markers, but this is only applicable in families known to have diabetes. Since 1993, there have been considerable abdvances in the understanding of the genetic aspects of the disease with the identification of numerous loci with a potential role, but this work remains fundamental and cannot be used in clinical practice for risk evaluation.