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Cystathionine beta synthase deficiency affects mouse endochondral ossification.

Karine Robert·Nicole Maurin·Catherine Vayssettes·Nathalie Siauve·Nathalie Janel
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Abstract

Cystathionine beta synthase (CBS) is a crucial regulator of plasma concentrations of homocysteine. Severe hyperhomocysteinemia due to CBS deficiency confers diverse clinical manifestations, notably characteristic skeletal abnormalities. To investigate this aspect of hyperhomocysteinemia, we analyzed the skeleton of CBS-deficient mice, a murine model of severe hyperhomocysteinemia. Radiography, Alcian Blue/Alizarin Red S-stained whole skeletal preparations, and histological comparisons were used to determine the extent, pattern, and distribution of skeletal abnormalities in CBS-deficient mice. Disruption of the murine CBS gene leads to skeletal abnormalities, notably kyphoscoliosis, with temporal shortening of long bones due to impaired cartilage differentiation, albeit to differing degrees.

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AnimalsBone and BonesBreedingCystathionine beta-SynthaseDNADisease Models, AnimalFemaleGenotypeHomocysteineHyperhomocysteinemiaMaleMarfan SyndromeMiceMice, Inbred StrainsMice, KnockoutOsteogenesisRadiographyScoliosisJournal ArticleResearch Support, Non-U.S. Gov't

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Karine Robert, Nicole Maurin, Catherine Vayssettes, Nathalie Siauve, Nathalie Janel. 2005. Cystathionine beta synthase deficiency affects mouse endochondral ossification.. https://doi.org/10.1002/ar.a.20145

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