title: Cystathionine beta synthase deficiency affects mouse endochondral ossification.
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.
authors.affiliation: EA 3508, University of Paris 7, Denis Diderot, 2 Place Jussieu, 75251 Paris Cedex 05, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Robert
authors.forename: Nicole
authors.initials: N
authors.lastname: Maurin
authors.forename: Catherine
authors.initials: C
authors.lastname: Vayssettes
authors.forename: Nathalie
authors.initials: N
authors.lastname: Siauve
authors.forename: Nathalie
authors.initials: N
authors.lastname: Janel
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000201:enzymology; D001947:Breeding / Q000379:methods; D003541:Cystathionine beta-Synthase / Q000172:deficiency* / Q000235:genetics; D004247:DNA / Q000032:analysis; D004195:Disease Models, Animal; D005260:Female; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D008297:Male; D008382:Marfan Syndrome / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D051379:Mice; D008815:Mice, Inbred Strains; D018345:Mice, Knockout; D010012:Osteogenesis / Q000502:physiology*; D011859:Radiography; D012600:Scoliosis / Q000201:enzymology / Q000235:genetics / Q000473:pathology*
chemical_list: D006710:Homocysteine; D004247:DNA; D003541:Cystathionine beta-Synthase