Investigating FUS variation in Parkinson's disease

Catherine Labbé, Sruti Rayaprolu, Alexandra Soto-Ortolaza, Kotaro Ogaki, Ryan J. Uitti, Zbigniew K Wszolek, Owen A Ross

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Mutations of the FUS gene were first reported to cause amyotrophic lateral sclerosis (ALS). Subsequent studies confirmed the role of mutations in ALS and also implicated them in frontotemporal dementia (FTD). Recently, through Next-Generation Exome sequencing approaches a mutation resulting in a substitution (p.Q290X) in the nuclear export domain of the FUS protein was nominated as a cause of autosomal dominant essential tremor (ET) in a large kindred. In addition, recent reports suggest a possible role for TDP-43 mutations in parkinsonism; TDP-43 is another RNA-binding protein implicated in ALS. Given these findings we investigated the role of FUS variants in Parkinson's disease (PD). We sequenced specific regions of the gene encoding three functional domains of the FUS protein in 702 patients with PD. Our sequencing study did not identify any novel non-synonymous variant that would appear to affect the subjects' susceptibility to Parkinson's disease. These findings and previous studies have shown that variants within the FUS gene are not a common cause of PD or ET, in comparison to their role in ALS.

Original languageEnglish (US)
JournalParkinsonism and Related Disorders
Volume20
Issue numberSUPPL.1
DOIs
StatePublished - Jan 2014

Fingerprint

Amyotrophic Lateral Sclerosis
RNA-Binding Protein FUS
Parkinson Disease
Essential Tremor
Mutation
Genes
Exome
Frontotemporal Dementia
RNA-Binding Proteins
Cell Nucleus Active Transport
Parkinsonian Disorders

Keywords

  • Amyotrophic lateral sclerosis
  • Essential tremor
  • FUS
  • Genetics
  • Movement disorders
  • Parkinson's disease

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Investigating FUS variation in Parkinson's disease. / Labbé, Catherine; Rayaprolu, Sruti; Soto-Ortolaza, Alexandra; Ogaki, Kotaro; Uitti, Ryan J.; Wszolek, Zbigniew K; Ross, Owen A.

In: Parkinsonism and Related Disorders, Vol. 20, No. SUPPL.1, 01.2014.

Research output: Contribution to journalArticle

Labbé, Catherine ; Rayaprolu, Sruti ; Soto-Ortolaza, Alexandra ; Ogaki, Kotaro ; Uitti, Ryan J. ; Wszolek, Zbigniew K ; Ross, Owen A. / Investigating FUS variation in Parkinson's disease. In: Parkinsonism and Related Disorders. 2014 ; Vol. 20, No. SUPPL.1.
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