Analysis of the C9orf72 gene in spinal muscular atrophy patients. Issue 7 (December 2014)

• Record Type: Journal Article
• Authors: Alías, Laura; Bernal, Sara; Barceló, Maria J.; Martínez-Hernández, Rebeca; Martínez, Elisabeth; Baiget, Montserrat; Tizzano, Eduardo F.
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 15:Issue 7/8(2014)
• Page Start: 563
• Page End: 568
• Publication Date: 2014-12
• Subjects: 616.839
• DOI: 10.3109/21678421.2014.929148
• Languages: English
• ISSNs: 2167-8421

Abstract

<abstract> <title>Abstract</title> <p>Spinal muscular atrophy and amyotrophic lateral sclerosis are both motor neuron disorders. Several studies have tried to establish a link between the two diseases but the subject is still under debate. In amyotrophic lateral sclerosis, large expansions of the hexanucleotide GGGGCC in intron 1 of the <italic>C9orf72</italic> gene are responsible for a variable percentage of familial and sporadic cases. We investigated whether the number of the hexanucleotide repeat in <italic>C9orf72</italic> was associated with the phenotype and the number of <italic>SMN2</italic> copies in a group of 162 SMA patients. Conventional PCR, repeat primed-PCR and Southern blot were used to determine repeat number and characterize large expansions. Results showed that no pathological (&gt; 30 repeats) or premutated alleles (20–30 repeats) were found. The allelic distribution of the <italic>C9orf72</italic> gene in spinal muscular atrophy patients overlapped with the data obtained in our control population, discarding putative repeats that may be associated with the disease. No association was observed with either the SMA phenotype or the number of <italic>SMN2</italic> copies. In conclusion, the involvement of <italic>C9orf72</italic> as a genetic modifier in spinal muscular atrophy is unlikely. Current investigation of modifier genes in SMA and of the link between ALS and SMA should consider other possible candidates.</p> </abstract>