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Mitochondrial pathophysiology in Friedreich's ataxia.
MedLine Citation:
PMID:  23859341     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Neurological examination indicates that Friedreich's ataxia corresponds to a mixed sensory and cerebellar ataxia, which affects the proprioceptive pathways. Neuropathology and pathophysiology of Friedreich's ataxia involves the peripheral sensory nerves, dorsal root ganglia, posterior columns, the spinocerebellar, and corticospinal tracts of the spinal cord, gracile and cuneate nuclei, dorsal nuclei of Clarke, and the dentate nucleus. Involvement of the myocardium and pancreatic islets of Langerhans indicates that it is also a systemic disease. The pathophysiology of the disease is the consequence of frataxin deficiency in the mitochondria and cells. Some of the biological consequences are currently recognized such as the effects on iron-sulfur cluster biogenesis or the oxidative status, but others deserve to be studied in depth. Among physiological aspects of mitochondria that have been associated with neurodegeneration and may be interesting to investigate in Friedreich's ataxia we can include mitochondrial dynamics and movement, communication with other organelles especially the endoplasmic reticulum, calcium homeostasis, apoptosis, and mitochondrial biogenesis and quality control. Changes in the mitochondrial physiology and transport in peripheral and central axons and mitochondrial metabolic functions such as bioenergetics and energy delivery in the synapses are also relevant functions to be considered. Thus, to understand the general pathophysiology of the disease and fundamental pathogenic mechanisms such as dying-back axonopathy, and determine molecular, cellular and tissue therapeutic targets, we need to discover the effect of frataxin depletion on mitochondrial properties and on specific cell susceptibility in the nervous system and other affected organs.
Authors:
Pilar González-Cabo; Francesc Palau
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of neurochemistry     Volume:  126 Suppl 1     ISSN:  1471-4159     ISO Abbreviation:  J. Neurochem.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985190R     Medline TA:  J Neurochem     Country:  England    
Other Details:
Languages:  eng     Pagination:  53-64     Citation Subset:  IM    
Copyright Information:
© 2013 International Society for Neurochemistry.
Affiliation:
Program in Rare and Genetic Diseases, Centro de Investigación Príncipe Felipe, Valencia, Spain; Instituto de Biomedicina de Valencia, CSIC, Valencia, Spain; CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.
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