A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases

Saunderson, Rebecca B.; Yu, Bing; Trent, Ronald J.; Pamphlett, Roger

doi:10.1016/j.jns.2007.10.006

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…We found no association between the length of the AR CAG repeat and ALS. Previous studies in smaller samples [median (range) ALS patient number across studies = 76.5 (3–146)] found no differences in AR CAG repeat number in ALS and control individuals in spinal cord as well as in various other tissues, including blood and brain [15–18]. Using a larger cohort of patients, our results expand on such findings.…”

Section: Discussionsupporting

confidence: 81%

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

Bruson

Sambataro

Querin

et al. 2012

Euro J of Neurology

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Section: Discussionsupporting

confidence: 81%

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

Bruson

Sambataro

Querin

et al. 2012

Euro J of Neurology

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“…Since then others have failed to find ALS brain-specific mutations involving either the length of androgen receptor triplet repeats [23], single nucleotide variants of coding and non-coding regions of TARDP [24], [25], or of all exons and the promoter of superoxide dismutase 1 [26]. ALS brain-situated genome-wide variants in chromosomal copy number [27] and in DNA methylation [28] have been reported, but these still require independent validation.…”

Section: Discussionmentioning

confidence: 99%

Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?

et al. 2013

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Gene mutations that preferentially affect the CNS have been implicated in a number of neurological disorders. This leads to the possibility that a disease-causing mutation present only in CNS tissues could be missed if it were tested in a blood DNA sample only. The commonest mutation in amyotrophic lateral sclerosis (ALS) is an expansion of the hexanucleotide repeats of C9orf72. To find out if CNS-specific mutations of this gene could cause some cases of ALS we looked for differences in the size of C9orf72 repeats between DNA from the CNS and from white blood cells (WBCs) of 38 sporadic ALS patients, using a repeat-primed PCR screening test. We also looked for differences in C9orf72 repeats in WBC DNA from 6 ALS-discordant and 1 ALS-concordant monozygotic twins. Abnormally expanded C9orf72 repeats were found in 13% of the ALS CNS samples, as well as in their paired WBC DNA. The 87% of ALS CNS samples with normal-sized C9orf72 repeats had the same number of repeats in paired WBC samples. All ALS-discordant twins had the same normal numbers of WBC C9orf72 repeats. Although previous work suggests some tissue mosaicism in C9orf72 repeat size is probably present, this study indicates that this is not likely to be of sufficient magnitude to result in a normal C9orf72 repeat length in blood but an abnormally expanded repeat length in the CNS. This suggests that a blood DNA test alone will usually be sufficient to make a diagnosis of C9orf72 repeat-related ALS.

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“…Using brain tissues provided by the TRC, researchers have excluded several possible causes of sporadic MND, including some viral infective agents [77], and impairment of methylation genes responsible for detoxifying the body from heavy metal exposure [78]. Blood samples of those with MND collected separately by the MND-DNA bank, in association with DNA obtained from brain tissues from the TRC, have expanded the types of studies able to be undertaken [79–81]. DNA studies from blood complement similar studies using brain tissues.…”

Section: Specific Examples Of Molecular Neuropathological Studies mentioning

confidence: 99%

The Importance of Brain Banks for Molecular Neuropathological Research: The New South Wales Tissue Resource Centre Experience

Dedova

Harding

Sheedy

et al. 2009

IJMS

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New developments in molecular neuropathology have evoked increased demands for postmortem human brain tissue. The New South Wales Tissue Resource Centre (TRC) at The University of Sydney has grown from a small tissue collection into one of the leading international brain banking facilities, which operates with best practice and quality control protocols. The focus of this tissue collection is on schizophrenia and allied disorders, alcohol use disorders and controls. This review highlights changes in TRC operational procedures dictated by modern neuroscience, and provides examples of applications of modern molecular techniques to study the neuropathogenesis of many different brain disorders.

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A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases

Cited by 6 publications

References 17 publications

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?

The Importance of Brain Banks for Molecular Neuropathological Research: The New South Wales Tissue Resource Centre Experience

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