Precision medicine in pantothenate kinase-associated neurodegeneration

Neural Regeneration Research
Mónica Álvarez-CórdobaJosé A Sánchez-Alcázar

Abstract

Neurodegeneration with brain iron accumulation is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia. The predominant clinical symptoms include spasticity, progressive dystonia, Parkinson's disease-like symptoms, neuropsychiatric alterations, and retinal degeneration. Among the neurodegeneration with brain iron accumulation disorders, the most frequent subtype is pantothenate kinase-associated neurodegeneration (PKAN) caused by defects in the gene encoding the enzyme pantothenate kinase 2 (PANK2) which catalyzed the first reaction of the coenzyme A biosynthesis pathway. Currently there is no effective treatment to prevent the inexorable course of these disorders. The aim of this review is to open up a discussion on the utility of using cellular models derived from patients as a valuable tool for the development of precision medicine in PKAN. Recently, we have described that dermal fibroblasts obtained from PKAN patients can manifest the main pathological changes of the disease such as intracellular iron accumulation accompanied by large amounts of lipofuscin granules, mitochondrial dysfunction and a pronou...Continue Reading

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Citations

Jul 15, 2020·Journal of Molecular Neuroscience : MN·Jayantee KalitaSunil Kumar
Nov 19, 2020·Diseases·Irene Villalón-GarcíaJosé Antonio Sánchez-Alcázar
Aug 8, 2021·International Journal of Molecular Sciences·Beata TarnackaMaria Maślińska

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Methods Mentioned

BETA
genotyping

Clinical Trials Mentioned

NCT01760005

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