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Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
Author(s) -
Pamphlett Roger,
Morahan Julia M.,
Luquin Natasha,
Yu Bing
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22095
Subject(s) - amyotrophic lateral sclerosis , copy number variation , somatic cell , multiple sclerosis , biology , medicine , genetics , genome , pathology , gene , disease , immunology
Most analyses of blood DNA in sporadic neuromuscular disorders have been inconclusive. This may be because some genetic variants occur only in brain tissue. We therefore looked for copy number variants (CNVs) in both blood and brain in patients with sporadic amyotrophic lateral sclerosis (SALS). Methods:Genome‐wide CNVs were compared in blood and brain from 32 SALS patients and from 26 normal (control) brains, using Affymetrix 6.0 arrays. Results: There were 410 CNVs present in brain but not blood (somatic CNVs) in 94% of the patients (median 8 CNVs per patient). Twenty‐four of the somatic CNVs were rare, were not found in control brains, and overlapped with genes. Conclusions: Brain‐specific CNVs may be common and appear to be present in a proportion of patients with SALS. The more detailed copy number analysis that is becoming available with massively parallel sequencing may uncover brain‐specific CNVs that underlie some cases of SALS. Muscle Nerve, 2011