Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma.

ABSTRACT:

Background

Pheochromocytoma and paraganglioma (PPGL) are neuroendocrine tumors with frequent mutations in genes linked to the tricarboxylic acid cycle. However, no pathogenic variant has been found to date in succinyl-CoA ligase (SUCL), an enzyme that provides substrate for succinate dehydrogenase (SDH; mitochondrial complex II [CII]), a known tumor suppressor in PPGL.

Methods

A cohort of 352 patients with apparently sporadic PPGL underwent genetic testing using a panel of 54 genes developed at the National Institutes of Health, including the SUCLG2 subunit of SUCL. Gene deletion, succinate levels, and protein levels were assessed in tumors where possible. To confirm the possible mechanism, we used a progenitor cell line, hPheo1, derived from a human pheochromocytoma, and ab

SUBMITTER: Hadrava Vanova K 

PROVIDER: S-EPMC8755484 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature