Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.

ABSTRACT: Friedreich's Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients. Deficiency of frataxin, a small mitochondrial protein, is responsible for all clinical and morphological manifestations of FRDA. The focus of our study was to investigate the unexplored Ca²⁺ homeostasis in cerebellar granule neurons (CGNs) and in cardiomyocytes of FRDA cellular models to understand the pathogenesis of degeneration. Ca²⁺ homeostasis in neurons and cardiomyocytes is not only crucial for the cellular wellbeing but more importantly to generate action potential in both neurons and cardiomyocytes. By challenging Ca²⁺ homeostasis i

SUBMITTER: Abeti R 

PROVIDER: S-EPMC6176067 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature