Proteomics/Proteolytic processing/Lethal effects of proteolytic processing

Lethal effects of proteolytic processing
Proteolytic processing not only helps in carrying out normal cellular processes but it also can cause processing of proteins to give lethal proteins. A classic example of proteolytic processing which develops lethal protein is development of Netherton syndrome. Netherton syndrome is a autosomal recessive congenital syndrome which causes ichthyosiform erythroderma caused by a mutation in the human SPINK5. Biochemical analysis of Netherton syndrome have shown an increase in the proteolytic processing of profilggrin into its constituent filaggrin monomers. Defects in filaggrin processing cause congenital disorders like icthyosis. SPINK5 undergoes extreme proteolytic processing furin is assumed to be involved in the proteolytic processing of SPINX5 however the exact extent of processing is yet to be determined.In the absence of serine protease inhibitor SPINK5 there is abnormal increase in the processing of profilaggrin resulting in the increased production of filaggarin monomers causing severely compromised epidermal barrier function.