Jian-Ke Tie’s Team on Comorbidity of VitK-dependent Clotting Factors Deficiency and Chondrodysplasia Punctata
Journal of Thrombosis and Haemostasis (JTH) shared on LinkedIn:
”Molecular insights into the comorbidity of vitamin K–dependent clotting factor deficiency and chondrodysplasia punctata
By Da-Yun Jin, Xuejie Chen, Mengying Wang, Xiaofeng Qi, Darrel W. Stafford, Sara Lewis, Mitchell J. Weiss, Ulrike M. Reiss, and Jian-Ke Tie
• Mutations in gamma-glutamyl carboxylase (GGCX) disrupt the vitamin K cycle, causing combined bleeding diathesis and skeletal calcification defects, yet responses to vitamin K therapy vary.
• In a patient with two novel compound heterozygous GGCX mutations (H587R and P596fs), researchers used bioluminescent assays, split-nanoluciferase complementation, and structural modeling to dissect differential effects on hepatic and extrahepatic vitamin K–dependent proteins (VKDPs).
• The P596fs variant abolished enzyme activity, while H587R selectively impaired extrahepatic VKDPs(e.g., matrix Gla protein), explaining why coagulation improved but skeletal abnormalities persisted. This highlights how mutation-specific GGCX dysfunction shapes phenotype and therapeutic response.”
Read the full article here.
Article: Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata
Authors: Da-Yun Jin, Xuejie Chen, Mengying Wang, Xiaofeng Qi, Darrel W. Stafford, Sara Lewis, Mitchell J. Weiss, Ulrike M. Reiss, Jian-Ke Tie
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