Germline Lysine-Specific Demethylase 1 (<i>LSD1/KDM1A</i>) Mutations Confer Susceptibility to Multiple Myeloma.

ABSTRACT: Given the frequent and largely incurable occurrence of multiple myeloma, identification of germline genetic mutations that predispose cells to multiple myeloma may provide insight into disease etiology and the developmental mechanisms of its cell of origin, the plasma cell (PC). Here, we identified familial and early-onset multiple myeloma kindreds with truncating mutations in lysine-specific demethylase 1 (LSD1/KDM1A), an epigenetic transcriptional repressor that primarily demethylates histone H3 on lysine 4 and regulates hematopoietic stem cell self-renewal. In addition, we found higher rates of germline truncating and predicted deleterious missense KDM1A mutations in patients with multiple myeloma unselected for family history compared with controls. Both monoclonal gammopathy of undete

SUBMITTER: Wei X 

PROVIDER: S-EPMC5955848 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature