Elsevier

Neuroscience Letters

Volume 270, Issue 2, 30 July 1999, Pages 110-112
Neuroscience Letters

No mutation in the entire coding region of the α-synuclein gene in pathologically confirmed cases of multiple system atrophy

https://doi.org/10.1016/S0304-3940(99)00475-9Get rights and content

Abstract

To determine whether mutations in the coding region of the α-synuclein gene are relevant in cases of multiple system atrophy (MSA), detailed nucleotide sequence analysis of the α-synuclein gene was performed using total RNA obtained from autopsied brain specimens of 11 pathologically confirmed cases of MSA. The brain specimens used in this study contained both gray and white matter, which were dissected from the frontal, temporal or occipital lobe. No nucleotide alterations were found in the entire coding region of the α-synuclein gene in any of the cases. While mutations in the regulatory or intronic regions of the gene were not ruled out, our results suggest that mutations in the coding region of the α-synuclein gene are unlikely to contribute to the pathogenesis of MSA.

References (16)

There are more references available in the full text version of this article.

Cited by (61)

  • Glia and alpha-synuclein in neurodegeneration: A complex interaction

    2016, Neurobiology of Disease
    Citation Excerpt :

    Polymorphisms within the SNCA gene might induce the development of MSA (Al-Chalabi et al., 2009; Scholz et al., 2009). However, in different studies and in a genome-wide association study the polymorphisms in the SNCA gene in MSA could not be confirmed (Ozawa et al., 1999; Yun et al., 2010; Ahmed et al., 2012). Impairment of COQ2 and therefore inducing a functional impairment of the mitochondrial respiratory chain and enhanced vulnerability to oxidative stress were described in Japanese patients recently (Multiple-System Atrophy Research, C, 2013), yet no such correlation between loss-of-function of COQ2 variants and increased risk of MSA in Europeans and Koreans was found (Jeon et al., 2014; Schottlaender et al., 2014; Sharma et al., 2014).

  • Animal Models of Multiple-System Atrophy

    2015, Movement Disorders: Genetics and Models: Second Edition
  • Genomic aspects of sporadic neurodegenerative diseases

    2014, Biochemical and Biophysical Research Communications
  • Genetic players in multiple system atrophy: Unfolding the nature of the beast

    2011, Neurobiology of Aging
    Citation Excerpt :

    One German family with probable MSA affecting 2 members in 2 successive generations was described (Wullner et al., 2004). Genetic testing excluded spinocerebellar ataxia (SCA) types 1–3, 6, 7, and 17 as well as mutations in the α-synuclein gene (Ozawa et al., 1999; Wullner et al., 2004). One affected patient died subsequently and the diagnosis was confirmed according to standard neuropathological criteria (Trojanowski and Revesz, 2007; Wullner et al., 2009).

  • Etiology, Pathology, and Pathogenesis

    2010, Blue Books of Neurology
    Citation Excerpt :

    Initial screening studies for candidate genes revealed no risk factors, however.21-23 While it has been shown that α-synuclein plays a role in the pathogenesis of some types of familial (but not sporadic) PD,24 no mutations in the entire coding region of the α-synuclein gene have been found in MSA.25 However, α-synuclein gene variants have been related to an increased risk of MSA in a multi-centre whole genomic association study recently.26

View all citing articles on Scopus
View full text