ADPRHL1
Title: ADP-Ribosylhydrolase 1 (ADPRHL1): A Key Player in DNA Damage Response and Cancer Biology
Description:
ADP-ribosylhydrolase 1 (ADPRHL1) is an enzyme that plays a crucial role in DNA damage response and genomic stability. It belongs to the ADPRH family of enzymes, responsible for hydrolyzing ADP-ribose (ADPR) from poly(ADP-ribose) (PAR), a signaling molecule produced in response to DNA damage. ADPRHL1 is primarily localized in the nucleus, where it contributes to the repair of DNA single-strand breaks (SSBs) and double-strand breaks (DSBs).
Associated Diseases:
Dysregulation of ADPRHL1 has been implicated in various diseases, including:
-
Cancer: ADPRHL1 mutations or deletions have been linked to increased tumorigenesis and poor prognosis in several cancers, such as breast, lung, and ovarian cancer. Its inactivation can impair DNA repair and promote genome instability, contributing to cancer development and progression.
-
Neurological disorders: Mutations in ADPRHL1 have been associated with spinocerebellar ataxia type 23 (SCA23), a rare neurodegenerative disorder characterized by progressive loss of motor coordination and speech impairment.
-
Cardiovascular diseases: ADPRHL1 has been implicated in regulating cardiac hypertrophy and heart failure. Dysregulation of ADPRHL1 can disrupt calcium homeostasis and promote fibrosis, leading to cardiovascular dysfunction.
Did you Know ?
According to a study published in the journal "Molecular Cell," ADPRHL1 deficiency in mice results in a 50% reduction in the efficiency of DNA SSB repair, highlighting its critical role in maintaining genomic integrity.
