Identification of active loci of a human endogenous retrovirus in neurons of patients with amyotrophic lateral sclerosis

Abstract

Background-Amyotrophic lateral sclerosis (ALS) is characterized by the progressive loss of motor neurons, of unknown etiology. Previous studies showed reverse transcriptase in serum of ALS patients at levels comparable to HIV-infected patients; however, the source and significance of the retroviral elements is uncertain.

Human Endogenous Retroviruses

“…Another disease that is related to HERV is HERV-K. Different reports indicated that HERV-K encoded proteins (gag, pol, env) are upregulated in Amyotrophic Lateral Sclerosis (ALS) brains as compared with control groups (Douville et al, 2011;Li et al, 2015). HERVs also may trigger autoimmune diseases.…”

Des séquences rétrovirales endogènes dans le génome humain peuvent jouer un rôle physiologique ou pathologique

“…C'est en 2011 que l'équipe d'Avindra Nath a identifié et caractérisé la famille de rétrovirus endogènes humains HERV-K comme étant l'origine de cette activité RT [44]. Au cours de ces études, une activation spécifique de HERV-K a été mise en évidence dans les neurones des patients atteints de SLA corrélée à une augmentation des ARN viraux (gag-pol et env).…”

Stress and the dynamic genome: Steroids, epigenetics, and the transposome

“…In the fruit fly brain, dysregulation of the transposon RNAbinding protein TDP-43 results in elevated levels of transposon transcripts and neuronal death (61,62). Aberrant TDP-43 expression or function has been associated with both amyotrophic lateral sclerosis and fronto-temporal dementia (61,63). It is notable that these findings demonstrate that control of retrotransposon RNA expression is physiologically important, whether the mechanism is RNA-processing (by dicer1) (57), RNA-binding (TDP-43) (61), or repressive chromatin states (15).…”