Ontology highlight
ABSTRACT:
SUBMITTER: Nikkanen J
PROVIDER: S-EPMC5760859 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Nikkanen Joni J Landoni Juan Cruz JC Balboa Diego D Haugas Maarja M Partanen Juha J Paetau Anders A Isohanni Pirjo P Brilhante Virginia V Suomalainen Anu A
EMBO molecular medicine 20180101 1
DNA polymerase gamma (POLG), the mtDNA replicase, is a common cause of mitochondrial neurodegeneration. Why POLG defects especially cause central nervous system (CNS) diseases is unknown. We discovered a complex genomic regulatory locus for <i>POLG</i>, containing three functional CNS-specific enhancers that drive expression specifically in oculomotor complex and sensory interneurons of the spinal cord, completely overlapping with the regions showing neuronal death in POLG patients. The regulato ...[more]