Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
作者： Anandalakshmi Venkatraman , Bamaprasad Dutta , Elavazhagan Murugan , Hao Piliang , Rajamani Lakshminaryanan
DOI: 10.1021/ACS.JPROTEOME.7B00188
关键词:
摘要: TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the cornea. Depending on type and position amino acid substitution, may be amyloid fibrillar, amorphous globular or both, but molecular mechanisms drive these different patterns aggregation not fully understood. In current study, we report composition from lattice dystrophy patients Asian origin with H626R R124C mutation compared it healthy tissues via LC–MS/MS. We identified several amyloidogenic, nonfibrillar associated proteins TGFBIp major components deposits. Our data indicates apolipoprotein A-IV, E, serine protease HTRA1 were significantly enriched patient deposits to controls. was also found 7-fold pat...
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