In vitro study reveals divergent lysosomal and proteostatic effects of Rab8a and Rab10 loss in human neurons, highlighting discrete mechanisms behind LRRK2 Parkinson's disease pathology.
Mutations in the LRRK2 gene cause familial Parkinson’s disease presenting with pleomorphic neuropathology that can involve α-synuclein or tau accumulation. LRRK2 mutations are thought to converge toward a pathogenic increase in LRRK2 kinase activity. A subset of small Rab GTPases have been identified as LRRK2 substrates, with LRRK2-dependent phosphorylation resulting in Rab inactivation. We used CRISPR/Cas9 genome editing to generate a novel series of isogenic iPSC lines deficient in the two most well validated LRRK2 substrates, Rab8a and Rab10, from two independent, deeply phenotyped healthy control lines. Thorough characterization of NGN2-induced neurons revealed divergent effects of Rab8a and Rab10 deficiency on lysosomal pH, LAMP1 association with Golgi, α-synuclein insolubility and tau phosphorylation, while parallel effects on lysosomal numbers and Golgi clustering were observed. Our data demonstrate largely antagonistic effects of genetic Rab8a or Rab10 inactivation which provide discrete insight into the pathologic features of their biochemical inactivation by pathogenic LRRK2 mutation. Highlights Rab8a and Rab10 deficiency induce lysosomal and Golgi defects Rab8a and Rab10 deficiency induce opposing effects on lysosomal pH Rab8a KO and Rab10 KO neurons show divergent effects on synuclein and tau proteostasis Inactivation of different Rab GTPases can induce distinct disease-relevant phenotypes
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Mamais et al. (2023) studied this question.
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