Want to know more about genetic testing of diabetes?

Diabetes is a very common chronic disease. From the point of view of genetic pathogenicity, diabetes can be divided into monogenic mutant diabetes and polygenic mutant diabetes. Monogenic mutant diabetes mainly focuses on diagnosis, while polygenic mutant diabetes is often caused by the interaction of multiple genes, which is closely related to the environment. Therefore, more emphasis is placed on genetic testing to achieve the effect of prevention.

Monogenic mutant diabetes accounts for about 2%~5% of all diabetic patients. This type of diabetes has a high penetrance (that is, the possibility that someone carries a mutant gene and develops diabetes). Gene diagnosis provides important clues for studying its pathogenesis.

Monogenic mutant diabetes mainly includes:

1, juvenile adult diabetes

MODY is the first type of monogenic mutant diabetes, and it is a group of clinical diseases with genetic heterogeneity. Their common features include non-ketotic diabetes, autosomal dominant inheritance pattern and islet β cell dysfunction.

2. Mitochondrial diabetes

Mitochondrial diabetes mellitus is a kind of maternal diabetes mellitus, which is often accompanied by mild to moderate neurological deafness, and is often caused by mutation at A 3243 site of tRNA encoding leucine. It is found that mitochondrial gene mutation can lead to insulin utilization disorder.

3, fat atrophic diabetes

Fat atrophic diabetes is often accompanied by adipose tissue deficiency, severe insulin resistance, hyperlipidemia, fatty liver and so on.

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