Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
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ABSTRACT:
SUBMITTER: Lausch E
PROVIDER: S-EPMC2725238 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
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Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Lausch Ekkehart E Keppler Romy R Hilbert Katja K Cormier-Daire Valerie V Nikkel Sarah S Nishimura Gen G Unger Sheila S Spranger Jürgen J Superti-Furga Andrea A Zabel Bernhard B
American journal of human genetics 20090716 2
The matrix metalloproteinases MMP9 and MMP13 catalyze the degradation of extracellular matrix (ECM) components in the growth plate and at the same time cleave and release biologically active molecules stored in the ECM, such as VEGFA. In mice, ablation of Mmp9, Mmp13, or both Mmp9 and Mmp13 causes severe distortion of the metaphyseal growth plate. We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disord ...[more]
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