Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels


Sen N. E., Drost J., Gispert S., Torres-Odio S., Damrath E., Klinkenberg M., ...More

NEUROBIOLOGY OF DISEASE, vol.96, pp.115-126, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 96
  • Publication Date: 2016
  • Doi Number: 10.1016/j.nbd.2016.09.002
  • Journal Name: NEUROBIOLOGY OF DISEASE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.115-126
  • Keywords: Mitochondrial dynamics, Autophagy, Ribosomal translation, RNA processing, Parkinsonism, Neurodegeneration, LEVODOPA-RESPONSIVE PARKINSONISM, LENGTH POLYGLUTAMINE EXPANSIONS, CENTRAL SOMATOSENSORY SYSTEM, LATERAL-SCLEROSIS RISK, TYPE-2 SCA2, CONSISTENT AFFECTION, REPEAT EXPANSIONS, SACCADE VELOCITY, INSULIN-RECEPTOR, SPINOCEREBELLAR
  • Dokuz Eylül University Affiliated: Yes

Abstract

Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson's disease (PD).