Open Access

Functional study of SCCD pathogenic gene UBIAD1 (Review)

  • Authors:
    • Jumin Xie
    • Lingxing Li
  • View Affiliations

  • Published online on: August 6, 2021
  • Article Number: 706
  • Copyright: © Xie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected families have been reported in the world since 1924, when it was first described. In 2007, the molecular basis of SCCD was demonstrated to be associated with a tumor suppressor, UbiA prenyltransferase domain‑containing 1 (UBIAD1), which was isolated from the bladder mucosa and demonstrated to be involved in vitamin K2 and CoQ10 biosynthesis. This sterol triggers the binding of UBIAD1 to 3‑hydroxy‑3‑methyl‑glutaryl coenzyme A reductase (HMGCR) at endoplasmic reticulum (ER) membranes, which is regulated by an intracellular geranylgeranyl diphosphate (GGpp) molecule. The inability of SCCD‑associated UBIAD1 to bind GGpp results in the consistent binding of UBIAD1 to HMGCR at ER membranes. This binding leads to HMGCRs being redundant. Therefore, they cannot be degraded through ER‑associated degradation to synthesize abundant cholesterol in tissue cells. Excess corneal cholesterol accumulation thus leads to SCCD disease. After decades, the efforts of numerous ophthalmologists and scientists have helped clarify the molecular basis and pathogenesis of SCCD, which has guided the effective diagnosis and treatment of this genetic disorder. However, more studies need to be conducted to understand the pathogenesis of SCCD disease from a genetic basis by studying the defective gene, UBIAD1. Results would guide effective diagnosis and treatment of the inherited eye disease.
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Xie J and Xie J: Functional study of SCCD pathogenic gene <em>UBIAD1</em> (Review). Mol Med Rep 24: 706, 2021
Xie, J., & Xie, J. (2021). Functional study of SCCD pathogenic gene <em>UBIAD1</em> (Review). Molecular Medicine Reports, 24, 706.
Xie, J., Li, L."Functional study of SCCD pathogenic gene <em>UBIAD1</em> (Review)". Molecular Medicine Reports 24.4 (2021): 706.
Xie, J., Li, L."Functional study of SCCD pathogenic gene <em>UBIAD1</em> (Review)". Molecular Medicine Reports 24, no. 4 (2021): 706.