Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

ABSTRACT:

Purpose

MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype.

Methods

Eight hundred thirty patients with PPGLs, negative for the main PPGL driver genes, were included in the study. Interpretation of variants of unknown significance (VUS) was performed using an algorithm based on 20 computational predictions, by implementing cell-based enzymatic and immunofluorescence assays, and/or by using a molecular dynamics simulation approach.

Results

Five variants with potential involvement in pathogenicity were ide

SUBMITTER: Calsina B 

PROVIDER: S-EPMC7456538 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature