DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Daniela Di Giuda; Anna Rita Bentivoglio; Gabriella Silvestri; Anna Modoni; Valentina Rizzo; Enrico Silvio Bertini; M. Di Nottia; M. Masciullo; D. Verrigni; S. Petrillo; A. Modoni; T. Rizza; M. Niceta; A. Torraco; M. Bianchi; M. Santoro; A. R. Bentivoglio; E. Bertini; F. Piemonte; R. Carrozzo

doi:doi: 10.1111/cge.12841

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Daniela Di Giuda, Anna Rita Bentivoglio, Gabriella Silvestri, Anna Modoni, Valentina Rizzo, Enrico Silvio Bertini, M. Di Nottia, M. Masciullo, D. Verrigni, S. Petrillo, A. Modoni, T. Rizza, M. Niceta, A. Torraco, M. Bianchi, M. Santoro, A. R. Bentivoglio, E. Bertini, F. Piemonte, R. Carrozzo

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

13 Citazioni (Scopus)

Abstract

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.

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	Clinical Genetics
Volume	2016
DOI	https://doi.org/doi: 10.1111/cge.12841
Stato di pubblicazione	Pubblicato - 2016

Keywords

DJ-1
Early-onset parkinsonism
Genetics
Genetics (clinical)
Mitochondrial complex I
Mitochondrial disease
Oxidative stress

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doi: 10.1111/cge.12841

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Di Giuda, D., Bentivoglio, A. R., Silvestri, G., Modoni, A., Rizzo, V., Bertini, E. S., Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A. R., Bertini, E., Piemonte, F., & Carrozzo, R. (2016). DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7. Clinical Genetics, 2016, N/A-N/A. https://doi.org/doi: 10.1111/cge.12841

Di Giuda, Daniela ; Bentivoglio, Anna Rita ; Silvestri, Gabriella ; Modoni, Anna ; Rizzo, Valentina ; Bertini, Enrico Silvio ; Di Nottia, M. ; Masciullo, M. ; Verrigni, D. ; Petrillo, S. ; Modoni, A. ; Rizza, T. ; Niceta, M. ; Torraco, A. ; Bianchi, M. ; Santoro, M. ; Bentivoglio, A. R. ; Bertini, E. ; Piemonte, F. ; Carrozzo, R. / DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7. In: Clinical Genetics. 2016 ; Vol. 2016. pagg. N/A-N/A.

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title = "DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7",

abstract = "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.",

keywords = "DJ-1, Early-onset parkinsonism, Genetics, Genetics (clinical), Mitochondrial complex I, Mitochondrial disease, Oxidative stress, DJ-1, Early-onset parkinsonism, Genetics, Genetics (clinical), Mitochondrial complex I, Mitochondrial disease, Oxidative stress",

author = "{Di Giuda}, Daniela and Bentivoglio, {Anna Rita} and Gabriella Silvestri and Anna Modoni and Valentina Rizzo and Bertini, {Enrico Silvio} and {Di Nottia}, M. and M. Masciullo and D. Verrigni and S. Petrillo and A. Modoni and T. Rizza and M. Niceta and A. Torraco and M. Bianchi and M. Santoro and Bentivoglio, {A. R.} and E. Bertini and F. Piemonte and R. Carrozzo",

year = "2016",

doi = "doi: 10.1111/cge.12841",

language = "English",

volume = "2016",

pages = "N/A--N/A",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377",

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Di Giuda, D , Bentivoglio, AR , Silvestri, G, Modoni, A, Rizzo, V, Bertini, ES, Di Nottia, M, Masciullo, M, Verrigni, D, Petrillo, S, Modoni, A, Rizza, T, Niceta, M, Torraco, A, Bianchi, M, Santoro, M, Bentivoglio, AR, Bertini, E, Piemonte, F & Carrozzo, R 2016, 'DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7', Clinical Genetics, vol. 2016, pagg. N/A-N/A. https://doi.org/doi: 10.1111/cge.12841

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7. / Di Giuda, Daniela ; Bentivoglio, Anna Rita ; Silvestri, Gabriella; Modoni, Anna; Rizzo, Valentina; Bertini, Enrico Silvio; Di Nottia, M.; Masciullo, M.; Verrigni, D.; Petrillo, S.; Modoni, A.; Rizza, T.; Niceta, M.; Torraco, A.; Bianchi, M.; Santoro, M.; Bentivoglio, A. R.; Bertini, E.; Piemonte, F.; Carrozzo, R.

In: Clinical Genetics, Vol. 2016, 2016, pag. N/A-N/A.

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

TY - JOUR

T1 - DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

AU - Di Giuda, Daniela

AU - Bentivoglio, Anna Rita

AU - Silvestri, Gabriella

AU - Modoni, Anna

AU - Rizzo, Valentina

AU - Bertini, Enrico Silvio

AU - Di Nottia, M.

AU - Masciullo, M.

AU - Verrigni, D.

AU - Petrillo, S.

AU - Modoni, A.

AU - Rizza, T.

AU - Niceta, M.

AU - Torraco, A.

AU - Bianchi, M.

AU - Santoro, M.

AU - Bentivoglio, A. R.

AU - Bertini, E.

AU - Piemonte, F.

AU - Carrozzo, R.

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 - Genetics

KW - Genetics (clinical)

KW - Mitochondrial complex I

KW - Mitochondrial disease

KW - Oxidative stress

KW - DJ-1

KW - Early-onset parkinsonism

KW - Genetics

KW - Genetics (clinical)

KW - Mitochondrial complex I

KW - Mitochondrial disease

KW - Oxidative stress

UR - http://hdl.handle.net/10807/95495

UR - http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1

U2 - doi: 10.1111/cge.12841

DO - doi: 10.1111/cge.12841

M3 - Article

VL - 2016

SP - N/A-N/A

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

ER -

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

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Keywords

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