Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.

ABSTRACT:

Context

Genes causing familial forms of diabetes mellitus are only partially known.

Objective

We set out to identify the genetic cause of hyperglycemia in multigenerational families with an apparent autosomal dominant form of adult-onset diabetes not due to mutations in known monogenic diabetes genes.

Methods

Existing whole-exome sequencing (WES) data were used to identify exonic variants segregating with diabetes in 60 families from the United States and Italy. Functional studies were carried out in vitro (transduced MIN6-K8 cells) and in vivo (Caenorhabditis elegans) to assess the diabetogenic potential of 2 variants in the malate dehydrogenase 2 (MDH2) gene linked with hyperglycemia in 2 of the families.

Results

A very rare mutation (p.Arg52Cys) in MDH2 stro

SUBMITTER: Jungtrakoon Thamtarana P 

PROVIDER: S-EPMC8852227 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature