INTRODUCTIONSynaptojanin is a polyphosphoinositide phosphatase, which presents in presynaptic nerve terminals and compounds to proteins involved in endocytosis. It has a major role in phosphorylation and recycling of synaptic vesicles (Harris, Hartwieg, Horvitz, & Jorgensen, ). This function is facilitated by two consecutive phosphatase domains in the Synaptojanin: an N‐terminal Sac1‐like inositol domain (Sac1) and a central 5′‐phosphatase domain (5′PP), which enable the removal of a phosphate group from the 4 and 5 position of phosphatidylinositol 4,5‐bisphosphate [PI (4,5) P2] (Di Paolo & De Camilli, ; McPherson, Garcia, Slepnev, & David, ).Synaptojanin 1 is encoded by the SYNJ1 on chromosome 21q22.11 and it is highly conserved throughout evolution (Cremona et al., ). Mutation in the SYNJ1 is associated with two different rare neurological diseases; early‐onset Parkinson disease (MIM 615530) and severe neurodegenerative with intractable seizure and tauopathies (MIM 617389) (Drouet & Lesage, ; Dyment et al., ).Early‐onset Parkinson disease was described in three independent families with same homozygous missense variant (R258Q) resulting in loss of dephosphorylation activity of Sac1 domain (Krebs et al., ; Olgiati et al., ). Another homozygous mutation R459P in SYNJ1 was identified in an Indian family (Kirola, Behari, Shishir, & Thelma, ). Recently, Taghavi et al., () published a SYNJ1
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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