MODY-6 in endocrinology clinical practice

• Volkova A.R.
• Kalugina V.V.
• Elena N. Ostroukhova
• Dygun Olga D.
• Valentina S. Mozgunova

Abstract

MODY was first described by R. Tattersall and S. Frajans in 1975 as a rare, genetically determined group of diseases characterized by different variants of mutations of the genes responsible for insulin secretion. At the moment, there are 13 known candidate genes and, accordingly, 13 subtypes of MODY.

The development of MODY6 is due to heterozygous mutations in the NEUROD1 gene, which is expressed in developing and mature pancreatic cells, in the neurons of the central and peripheral nervous systems, in the cells of the retina. The gene encodes the transcription factor NEUROD1, which plays a role in p-ceU differentiation and regulation of the insulin gene transcription. Diabetes can begin at any age and is accompanied by hearing impairment, visual abnormalities, and cerebellar lesions. This article presents a familial case of the MODY6 variant, which is not accompanied by the full clinical symptoms characteristic of this heterozygous mutation. It is impossible to exclude the possibility of the development of neuronal lesions of the retina of the eye, inner ear, cerebellum in the presented patients in the future; therefore, it is necessary to follow up with the relevant specialists.

Keywords:diabetes mellitus, MODY, hyperglycemia, insulin

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