Open AccessDiagnostic Investigation of Lesions Associated with Succinate Dehydrogenase Defects
Author(s) -
David Taïeb,
Henri J L M Timmers,
Karel Pacák
Publication year - 2018
Publication title -
hormone and metabolic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.762
H-Index - 90
eISSN - 1439-4286
pISSN - 0018-5043
DOI - 10.1055/a-0586-3710
Subject(s) - succinate dehydrogenase , phenotype , enzyme , suppressor , gene , genotype phenotype distinction , protein subunit , genotype , function (biology) , mitochondrion , loss function , cancer research , dehydrogenase , biology , medicine , endocrinology , genetics , biochemistry
The mitochondrial enzyme succinate dehydrogenase (SDH) acts as a tumor suppressor. Biallelic inactivation of one of the genes encoding for SDH subunits (collectively named SDHx) leads to complete loss of the protein function and the development of diverse group of tumors. Pheochromocytomas-paragangliomas are the prime example of hereditary tumors caused by SDH deficiency. In this review, we discuss the roles of imaging examinations, and illustrate new insights into genotype-imaging phenotype relationships.