Genetics of COPA syndrome

The Application of Clinical Genetics
Rajni KumrahAmit Rawat

Abstract

Inborn errors of immunity usually not only result in immunodeficiency but may also manifest as immune dysregulation in the form of autoinflammation, autoimmunity, or sometimes malignancy. One of the most recently discovered monogenic disorder of immune dysregulation is COPA syndrome. COPA syndrome is an inherited autoimmune disorder caused by mutations in COPA gene. COPA gene encodes for α subunit of the COP1 protein, which is involved in the reverse vesicular protein transport from Golgi apparatus to the endoplasmic reticulum (ER). The inheritance pattern of COPA syndrome is autosomal dominant, and the patients typically present with interstitial lung disease with pulmonary hemorrhage and subsequently develop arthritis. Immunological features involve autoantibody formation, elevated expression of IL-1β and IL-6, and increase in the number of Th17 cells. Molecular pathophysiology of COPA syndrome is not clearly understood. However, it is known that accumulation of unfolded proteins in ER leads to ER stress, which is an indirect result of aberrant vesicular transport of proteins from Golgi apparatus to ER and defective cellular autophagy. ER stress induces inflammation and is responsible for pathogenesis of a large number of chr...Continue Reading

Citations

Aug 5, 2019·World Journal of Pediatrics : WJP·Zhong-Xun Yu, Hong-Mei Song
Dec 18, 2020·European Respiratory Review : an Official Journal of the European Respiratory Society·Salvatore CazzatoVenerino Poletti
Sep 13, 2020·Joint, Bone, Spine : Revue Du Rhumatisme·Marie-Louise Frémond, Nadia Nathan

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Methods Mentioned

BETA
PCR
protein folding
nuclear translocation
immunoprecipitation assay

Software Mentioned

Polyphen

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