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(American Journal of Pathology. 2007;170:1659-1668.)
© 2007 American Society for Investigative Pathology
DOI: 10.2353/ajpath.2007.061264

Expression of the Murine Pomt1 Gene in Both the Developing Brain and Adult Muscle Tissues and Its Relationship with Clinical Aspects of Walker-Warburg Syndrome

Belén Prados, Almudena Peña, Rocío P. Cotarelo, M. Carmen Valero and Jesús Cruces

From the Department of Biochemistry, Instituto de Investigaciones Biomédicas "Alberto Sols" Centro Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain

Walker-Warburg syndrome (WWS) is the most severe of a group of congenital disorders that have in common defects in the O-glycosylation of {alpha}-dystroglycan. WWS is characterized by congenital muscular dystrophy coupled with severe ocular and brain malformations. Moreover, in at least one-fifth of the reported cases, mutations in the POMT1 gene are responsible for this disease. During embryonic development (E8.5 to E11.5), the mouse Pomt1 gene is expressed in the tissues most severely affected in WWS, the muscle, eye, and brain. In this study, we show that mPomt1 expression is maintained in the muscle and eye in later developmental stages and, notably, that its expression is particularly strong in regions of brain and cerebellum that, when affected, could generate the defects observed in patients with WWS. We show that the Pomt1 protein is localized to the sarcoplasmic reticulum of muscle tissue cells in adult mice, where {alpha}-dystroglycan is O-glycosylated. Furthermore, the Pomt1 protein is localized to the acrosome of maturing spermatids, where {alpha}-dystroglycan is not glycosylated, so that Pomt1 might have a different target for O-mannosylation in the testes. This expression pattern in the testes could also be related to the gonadal anomalies observed in some patients with WWS.




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