PMID: 30305322DOI: 10.1136/jnnp-2018-319210Oct 12, 2018Paper

Retrotransposons in the development and progression of amyotrophic lateral sclerosis.

Journal of Neurology, Neurosurgery, and Psychiatry
Abigail L SavageJohn P Quinn
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Abstract

Endogenous retrotransposon sequences constitute approximately 42% of the human genome, and mobilisation of retrotransposons has resulted in rearrangements, duplications, deletions, novel transcripts and the introduction of new regulatory domains throughout the human genome. Both germline and somatic de novo retrotransposition events have been involved in a range of human diseases, and there is emerging evidence for the modulation of retrotransposon activity during the development of specific diseases. Particularly, there is unequivocal consensus that endogenous retrotransposition can occur in neuronal lineages. This review addresses our current knowledge of the different mechanisms through which retrotransposons might influence the development of and predisposition to amyotrophic lateral sclerosis.

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An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort.

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Methods Mentioned

BETA
transfection
transgenic
RIPs
PCR
genotyping

Clinical Trials Mentioned

NCT02437110
NCT02868580

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