C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population

Natalya Y Abramycheva; Elena V Lysogorskaia; Maria S Stepanova; Maria N Zakharova; Elena A Kovrazhkina; Olga D Razinskaya; Andrey P Smirnov; Andrey V Maltsev; Alexey A Ustyugov; Michail S Kukharsky; Inna V Khritankova; Sergey O Bachurin; Johnathan Cooper-Knock; Vladimir L Buchman; Sergey N Illarioshkin; Veronika I Skvortsova; Natalia Ninkina

doi:10.1016/j.neurobiolaging.2015.07.004

C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population

Neurobiol Aging. 2015 Oct;36(10):2908.e5-9. doi: 10.1016/j.neurobiolaging.2015.07.004. Epub 2015 Jul 9.

Authors

Natalya Y Abramycheva¹, Elena V Lysogorskaia¹, Maria S Stepanova¹, Maria N Zakharova¹, Elena A Kovrazhkina², Olga D Razinskaya², Andrey P Smirnov², Andrey V Maltsev³, Alexey A Ustyugov⁴, Michail S Kukharsky³, Inna V Khritankova³, Sergey O Bachurin³, Johnathan Cooper-Knock⁵, Vladimir L Buchman⁶, Sergey N Illarioshkin¹, Veronika I Skvortsova², Natalia Ninkina⁷

Affiliations

¹ Department of Neurogenetics, Research Center of Neurology, Moscow, Russian Federation.
² Department of Neurology and Neurosurgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation.
³ Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation.
⁴ Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK.
⁵ Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
⁶ School of Biosciences, Cardiff University, Cardiff, UK.
⁷ Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK. Electronic address: ninkinan@cf.ac.uk.

PMID: 26254955
DOI: 10.1016/j.neurobiolaging.2015.07.004

Abstract

Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European Russian ALS patients is significantly lower than in Western European or Northern American ALS patients of Caucasian origin but higher than in Asian ALS patients.

Keywords: Amyotrophic lateral sclerosis; Mutation; Repeat expansion.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
C9orf72 Protein
Cohort Studies
DNA Repeat Expansion / genetics*
Europe
Humans
Introns / genetics
Proteins / genetics*
Russia
Trinucleotide Repeat Expansion
White People

Substances

C9orf72 Protein
C9orf72 protein, human
Proteins

Grants and funding

MR/K003771/1/Medical Research Council/United Kingdom