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Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.
Muscle Nerve. 2011 Oct; 44(4):492-8.MN

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.

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Authors+Show Affiliations

Pamphlett R
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
Morahan JM
No affiliation info available
Luquin N
No affiliation info available
Yu B
No affiliation info available

MeSH

AgedAged, 80 and overAmyotrophic Lateral SclerosisBloodBrainDNA Copy Number VariationsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedOligonucleotide Array Sequence Analysis

Pub Type(s)

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

Language

eng

PubMed ID

21826678

Citation

Pamphlett, Roger, et al. "Looking for Differences in Copy Number Between Blood and Brain in Sporadic Amyotrophic Lateral Sclerosis." Muscle & Nerve, vol. 44, no. 4, 2011, pp. 492-8.
Pamphlett R, Morahan JM, Luquin N, et al. Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. Muscle Nerve. 2011;44(4):492-8.
Pamphlett, R., Morahan, J. M., Luquin, N., & Yu, B. (2011). Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. Muscle & Nerve, 44(4), 492-8. https://doi.org/10.1002/mus.22095
Pamphlett R, et al. Looking for Differences in Copy Number Between Blood and Brain in Sporadic Amyotrophic Lateral Sclerosis. Muscle Nerve. 2011;44(4):492-8. PubMed PMID: 21826678.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. AU - Pamphlett,Roger, AU - Morahan,Julia M, AU - Luquin,Natasha, AU - Yu,Bing, Y1 - 2011/08/08/ PY - 2011/03/01/accepted PY - 2011/8/10/entrez PY - 2011/8/10/pubmed PY - 2011/11/9/medline SP - 492 EP - 8 JF - Muscle & nerve JO - Muscle Nerve VL - 44 IS - 4 N2 - 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. SN - 1097-4598 UR - https://www.unboundmedicine.com/medline/citation/21826678/Looking_for_differences_in_copy_number_between_blood_and_brain_in_sporadic_amyotrophic_lateral_sclerosis_ L2 - https://doi.org/10.1002/mus.22095 DB - PRIME DP - Unbound Medicine ER -