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Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.
Stefanski, Katherine M; Wilkinson, Mason C; Sanders, Charles R.
Afiliación
  • Stefanski KM; Department of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37240-7917, U.S.A.
  • Wilkinson MC; Department of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37240-7917, U.S.A.
  • Sanders CR; Department of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37240-7917, U.S.A.
Biochem Soc Trans ; 52(4): 1747-1756, 2024 08 28.
Article en En | MEDLINE | ID: mdl-38979632
ABSTRACT
Underexpression, overexpression, and point mutations in peripheral myelin protein 22 (PMP22) cause most cases of Charcot-Marie-Tooth disease (CMTD). While its exact functions remain unclear, PMP22 is clearly essential for formation and maintenance of healthy myelin in the peripheral nervous system. This review explores emerging evidence for roles of PMP22 in cholesterol homeostasis. First, we highlight dysregulation of lipid metabolism in PMP22-based forms of CMTD and recently-discovered interactions between PMP22 and cholesterol biosynthesis machinery. We then examine data that demonstrates PMP22 and cholesterol co-traffic in cells and co-localize in lipid rafts, including how disease-causing PMP22 mutations result in aberrations in cholesterol localization. Finally, we examine roles for interactions between PMP22 and ABCA1 in cholesterol efflux. Together, this emerging body of evidence suggests that PMP22 plays a role in facilitating enhanced cholesterol synthesis and trafficking necessary for production and maintenance of healthy myelin.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Células de Schwann / Enfermedad de Charcot-Marie-Tooth / Colesterol / Homeostasis / Proteínas de la Mielina Límite: Animals / Humans Idioma: En Revista: Biochem Soc Trans Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Células de Schwann / Enfermedad de Charcot-Marie-Tooth / Colesterol / Homeostasis / Proteínas de la Mielina Límite: Animals / Humans Idioma: En Revista: Biochem Soc Trans Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos