Medicina Interna: Acesso Aberto
Acesso livre

Abstrato

Gene Therapy and Battens Disease

Dominic Worku

Late Infantile Neuronal Ceroid Lipofuscinoses is an inherited neurodegenerative condition caused by a mutation in the CLN2 gene that codes for an enzyme, tripeptidyl peptidase I (TPP-1). Deficiencies in TPP-1 lead to protein accumulation within lysosomes and subsequent neuronal death, which produce the clinical features of the disease. Gene therapy is considered a potential treatment option to allow functional administration of CLN2 to restore TPP-1 activity and distribution in the CNS. Adeno- associated viruses are being trialed as a vector for gene therapy delivery. They are relatively safe and efficacious in their ability to mediate long-term gene expression at high levels of activity. This parallels improvements in both functional and clinical outcomes in human and animal models. This article outlines the potential clinical benefits of using gene therapy, and discusses some of the limitations of the trials to date.