Open AccessHyperkeratosis in cystathionine beta synthase‐deficient mice: An animal model of hyperhomocysteinemia
Author(s) -
Robert Karine,
Maurin Nicole,
Ledru Aurélie,
Delabar Jean,
Janel Nathalie
Publication year - 2004
Publication title -
the anatomical record part a: discoveries in molecular, cellular, and evolutionary biology
Language(s) - English
Resource type - Journals
eISSN - 1552-4892
pISSN - 1552-4884
DOI - 10.1002/ar.a.20082
Subject(s) - hyperhomocysteinemia , cystathionine beta synthase , homocysteine , dermis , homocystinuria , medicine , epidermis (zoology) , endocrinology , pathology , biology , biochemistry , enzyme , cysteine , methionine , anatomy , amino acid
Abstract Cystathionine beta synthase (CBS) is a crucial regulator of plasma concentrations of homocysteine. Severe hyperhomocysteinemia due to CBS deficiency confers diverse clinical manifestations. Patients with severe hyperhomocysteinemia have fine hair and thin skin, but it is unclear whether these changes are related to CBS deficiency or are coincidental. To investigate these aspects of hyperhomocysteinemia, we characterized skin abnormalities of CBS‐deficient mice, a murine model of severe hyperhomocysteinemia. Histological and histomorphometric analyses revealed that CBS‐deficient mice have wrinkled skin with hyperkeratinosis of the epidermis and thinning of the dermis. © 2004 Wiley‐Liss, Inc.