A common SNP risk variant MT1-MMP causative for Dupuytren's disease has a specific defect in collagenolytic activity.

doi:10.1016/j.matbio.2021.02.003

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Article

A common SNP risk variant MT1-MMP causative for Dupuytren's disease has a specific defect in collagenolytic activity.

Matrix biology : journal of the International Society for Matrix Biology - 1 Mar 2021

Itoh Yoshifumi, Ng Michael, Wiberg Akira, Inoue Katsuaki, Hirata Narumi, Paiva Katiucia Batista Silva, Ito Noriko, Dzobo Kim, Sato Nanami, Gifford Valentina, Fujita Yasuyuki, Inada Masaki, Furniss Dominic

Abstract excerpt

Dupuytren's Disease (DD) is a common fibroproliferative disease of the palmar fascia. We previously identified a causal association with a non-synonymous variant (rs1042704, p.D273N) in MMP14 (encoding MT1-MMP). In this study, we investigated the functional consequences of this variant, and demonstrated that the variant MT1-MMP (MT1-N273) exhibits only 17% of cell surface collagenolytic activity compared to the...

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PMID: 33592276
DOI: 10.1016/j.matbio.2021.02.003

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