ABSTRACT
@#The molecular basis of schnyder crystalline corneal dystrophy(SCCD)is UBIAD1 gene mutation. The pathogenesis of SCCD includes conformational change of UBIAD1 protein which leads to loss of combination with GGpp compounds. UBIAD1-HMG CoA reductase complexes can't be separated, and the rate-limiting enzyme can't dissociate from endoplasmic reticulum to cytoplasm, which results in loss of recognition and degradation by the proteasome. The direct consequence is the gradual accumulation and biosynthesis of cholesterol and non-sterol isoprenoids compounds in the cell. This paper reviews the clinical manifestation, molecular basis, pathogenesis of SCCD and the function of UBIAD1 which provide guidance for molecular diagnosis and treatment of SCCD and pave the way for elucidating the function of UBIAD1 <i>in vivo</i>.
ABSTRACT
@#The molecular basis of schnyder crystalline corneal dystrophy(SCCD)is UBIAD1 gene mutation. The pathogenesis of SCCD includes conformational change of UBIAD1 protein which leads to loss of combination with GGpp compounds. UBIAD1-HMG CoA reductase complexes can't be separated, and the rate-limiting enzyme can't dissociate from endoplasmic reticulum to cytoplasm, which results in loss of recognition and degradation by the proteasome. The direct consequence is the gradual accumulation and biosynthesis of cholesterol and non-sterol isoprenoids compounds in the cell. This paper reviews the clinical manifestation, molecular basis, pathogenesis of SCCD and the function of UBIAD1 which provide guidance for molecular diagnosis and treatment of SCCD and pave the way for elucidating the function of UBIAD1 <i>in vivo</i>.
ABSTRACT
@#Schnyder crystalline corneal dystrophy(SCCD)is a rare autosomal dominant genetic disorder that occurs in bilateral corneas and is associated with crystalline opacification. SCCD is an inherited eye disease and distributes equally in both man and woman. Clinical research revealed that corneal crystalline turbidity resulted from the abnormal accumulation of cholesterol, phospholipid and other lipids in the corneal epithelium and stroma. The occurrence of SCCD is related to abnormal lipid metabolism caused by UBIAD1 mutation, but the molecular basis of the disease is unknown. This paper reviews the discovery and developmental history of SCCD, the molecular basis of SCCD and its clinical research, which provides guidance for the diagnosis and treatment of SCCD and the elucidation of pathogenic molecular mechanism.
ABSTRACT
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease. CASE SUMMARY: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature.