GENETICS OF INSULIN-DEPENDENT DIABETES-MELLITUS - RELEVANCE FOR PRACTICAL BIOLOGY (VOL 55, PG 347, 1997)

Insulin-dependent diabetes mellitus (type 1) is a polygenic disease wi th environmental components. Progress in molcular biology has allowed a better understanding of the importance of genetics in this afflictio n. In practice, this knowledge poses two important questions. On the o ne hand, can we predict, by using genetic markers, an increased risk i n families or in the general population? On the other hand, is it poss ible to understand better the pathological process of the disease by m eans of genetic information? Initial information, gained by research i nto candidate genes, has raised high hopes with the discovery of two i mportant loci. The involvement of the HLA genes has demonstrated the a utoimmune character of the disease but does not explain everything. Th e more recent discovery of the role of the insulin gene allows a more mechanistic explanation. These two loci can be used as predictive mark ers, but this is only applicable in families known to have diabetes. S ince 1993, there have been considerable abdvances in the understanding of the genetic aspects of the disease with the identification of nume rous loci with a potential role, but this work remains fundamental and cannot be used in clinical practice for risk evaluation.