Roger Pamphlett1, Julia M Morahan, Natasha Luquin, Bing Yu. 1. The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Neuropathology Division, University of Sydney, Sydney, New South Wales 2006, Australia. roger.pamphlett@sydney.edu.au
Abstract
INTRODUCTION: 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.
INTRODUCTION: 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 SALSpatients 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.
Authors: Ivan Y Iourov; Svetlana G Vorsanova; Oxana S Kurinnaia; Sergei I Kutsev; Yuri B Yurov Journal: Mol Cytogenet Date: 2022-10-21 Impact factor: 1.904
Authors: Anders Valind; C Haikal; M E K Klasson; M C Johansson; J Gullander; M Soller; B Baldetorp; David Gisselsson Journal: Sci Rep Date: 2016-03-24 Impact factor: 4.379