TY - JOUR
T1 - DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
AU - Di Nottia, M
AU - Masciullo, Martina
AU - Verrigni, D
AU - Petrillo, S
AU - Modoni, Anna
AU - Rizzo, Valentina
AU - Di Giuda, Daniela
AU - Rizza, T
AU - Niceta, M
AU - Torraco, A
AU - Bianchi, M
AU - Santoro, M
AU - Bentivoglio, Anna Rita
AU - Bertini, Enrico Silvio
AU - Piemonte, F
AU - Carrozzo, R
AU - Silvestri, Gabriella
PY - 2016
Y1 - 2016
N2 - DJ-1 mutations are associated to early-onset Parkinson's disease and accounts for about 1-2% of the genetic forms. The protein is involved in many biological processes and its role in mitochondrial regulation is gaining great interest, even if its function in mitochondria is still unclear. We describe a 47-year-old woman affected by a multisystem disorder characterized by progressive, early-onset parkinsonism plus distal spinal amyotrophy, cataracts and sensory-neural deafness associated with a novel homozygous c.461C>A [p.T154K] mutation in DJ-1. Patient's cultured fibroblasts showed low ATP synthesis, high ROS levels and reduced amount of some subunits of mitochondrial complex I; biomarkers of oxidative stress also resulted abnormal in patient's blood. The clinical pattern of multisystem involvement and the biochemical findings in our patient highlight the role for DJ-1 in modulating mitochondrial response against oxidative stress.
AB - DJ-1 mutations are associated to early-onset Parkinson's disease and accounts for about 1-2% of the genetic forms. The protein is involved in many biological processes and its role in mitochondrial regulation is gaining great interest, even if its function in mitochondria is still unclear. We describe a 47-year-old woman affected by a multisystem disorder characterized by progressive, early-onset parkinsonism plus distal spinal amyotrophy, cataracts and sensory-neural deafness associated with a novel homozygous c.461C>A [p.T154K] mutation in DJ-1. Patient's cultured fibroblasts showed low ATP synthesis, high ROS levels and reduced amount of some subunits of mitochondrial complex I; biomarkers of oxidative stress also resulted abnormal in patient's blood. The clinical pattern of multisystem involvement and the biochemical findings in our patient highlight the role for DJ-1 in modulating mitochondrial response against oxidative stress.
KW - DJ-1
KW - early-onset parkinsonism
KW - mitochondrial complex I
KW - mitochondrial disease
KW - oxidative stress
KW - DJ-1
KW - early-onset parkinsonism
KW - mitochondrial complex I
KW - mitochondrial disease
KW - oxidative stress
UR - https://publicatt.unicatt.it/handle/10807/90660
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84990853711&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84990853711&origin=inward
U2 - 10.1111/cge.12841
DO - 10.1111/cge.12841
M3 - Article
SN - 0009-9163
SP - N/A-N/A
JO - Clinical Genetics
JF - Clinical Genetics
IS - 2016
ER -