Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis

Abstract Chromosomal copy number association studies in patients with amyotrophic lateral sclerosis (ALS) using blood DNA have so far been inconclusive. We employed genome-wide screening to look for copy number imbalances (CNIs) between blood and hair DNA from three ALS-discordant monozygotic twin p...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2011-09, Vol.18 (9), p.1231-1234
Main Authors: Pamphlett, Roger, Morahan, Julia M
Format: Article
Language:English
Subjects:
Adult
Aged
Allelic Imbalance - genetics
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - blood
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
Copy number
DNA Copy Number Variations - genetics
DNA-Binding Proteins - genetics
Female
Gene Expression Profiling
Hair - metabolism
Humans
Male
Microarray
Middle Aged
Motor neuron disease
Neurology
Oligonucleotide Array Sequence Analysis
Somatic mutation
Superoxide Dismutase - genetics
Superoxide Dismutase-1
Twins
Twins, Monozygotic - genetics
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Summary:Abstract Chromosomal copy number association studies in patients with amyotrophic lateral sclerosis (ALS) using blood DNA have so far been inconclusive. We employed genome-wide screening to look for copy number imbalances (CNIs) between blood and hair DNA from three ALS-discordant monozygotic twin pairs and two phenotypically normal monozygotic twin pairs. Genome-wide chromosomal copy number was estimated using AffyMetrix 6.0 GeneChips. CNIs were sought both between twin pairs and between blood and hair DNA from the same individuals. Two blood CNIs were found in one ALS-discordant twin pair. In another ALS-discordant twin pair, seven hair CNIs were detected. CNIs were also found between blood and hair in three individuals. Imbalances in blood copy number appear to be rare in monozygotic twin pairs, but hair may harbour more CNIs than blood. Copy number differences between blood and hair from the same individuals appear to be common. Since brain and hair share a common ectodermal origin, hair may be a more suitable tissue than blood to estimate somatic copy number variation in the brain.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2010.12.049