Neurologic orphan diseases: Emerging innovations and role for genetic treatments.

Autor:	Kioutchoukova IP; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Foster DT; Florida International University Herbert Wertheim College of Medicine, Florida International University Herbert Wertheim College of Medicine, Miami, FL 33199, United States., Thakkar RN; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Foreman MA; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Burgess BJ; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Toms RM; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Molina Valero EE; College of Medicine, University of Florida, Gainesville, FL 32611, United States., Lucke-Wold B; Department of Neurosurgery, University of Florida, Gainesville, FL 32611, United States. brandon.lucke-wold@neurosurgery.ufl.edu.
Jazyk:	angličtina
Zdroj:	World journal of experimental medicine [World J Exp Med] 2023 Sep 20; Vol. 13 (4), pp. 59-74. Date of Electronic Publication: 2023 Sep 20 (Print Publication: 2023).
DOI:	10.5493/wjem.v13.i4.59
Abstrakt:	Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing therapeutic agents for patients with these conditions. In our review, we highlight emerging options for patients with neurologic orphan diseases, specifically including diseases resulting in muscular deterioration, epilepsy, seizures, neurodegenerative movement disorders, inhibited cognitive development, neuron deterioration, and tumors. After extensive literature review, gene therapy offers a promising route for the treatment of neurologic orphan diseases. The use of clustered regularly interspaced palindromic repeats/Cas9 has demonstrated positive results in experiments investigating its role in several diseases. Additionally, the use of adeno-associated viral vectors has shown improvement in survival, motor function, and developmental milestones, while also demonstrating reversal of sensory ataxia and cardiomyopathy in Friedreich ataxia patients. Antisense oligonucleotides have also been used in some neurologic orphan diseases with positive outcomes. Mammalian target of rapamycin inhibitors are currently being investigated and have reduced abnormal cell growth, proliferation, and angiogenesis. Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases. Competing Interests: Conflict-of-interest statement: All the authors declare no conflict of interest. (©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu