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Article / Molecular Cell

Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and

Impair Parkin-Dependent Mitophagy

Dominik M Haddad, Sven Vilain, Melissa Vos, Giovanni Esposito, Samer Matta, Vera M Kalscheuer, Katleen Craessaerts, Maarten Leyssen, Rafaella M P Nascimento, Angela M Vianna-Morgante, Bart De Strooper, Hilde Van Esch, Vanessa A Morais, Patrik Verstreken
Abstract

The prevalence of intellectual disability is around 3%; however, the etiology of the disease remains unclear in most cases. We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. Drosophila deficient for dRad6 display defective synaptic function as a consequence of mitochondrial failure. Similarly, mouse mRad6a (Ube2a) knockout and patient-derived hRad6a (Ube2a) mutant cells show defective mitochondria. Using in vitro and in vivo ubiquitination assays, we show that RAD6A acts as an E2 ubiquitin-conjugating enzyme that, in combination with an E3 ubiquitin ligase such as Parkin, ubiquitinates mitochondrial proteins to facilitate the clearance of dysfunctional mitochondria in cells. Hence, we identify RAD6A as a regulator of Parkin-dependent mitophagy and establish a critical role for RAD6A in maintaining neuronal function.

 

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