NBIA (neurodegeneration with brain iron accumulation) comprises a heterogeneous group of neurodegenerative diseases having as a common denominator, iron overload in specific brain areas, mainly basal ganglia and globus pallidus. In the past decade a bunch of disease genes have been identified, but NBIA pathomechanisms are still not completely clear. PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA. It is caused by mutations in the PANK2 (pantothenate kinase 2) gene, coding for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the CoA (coenzyme A) biosynthetic pathway. A distinct form of NBIA, denominated CoPAN (CoA synthase protein-associated neurodegeneration), is caused by mutations in the CoASY (CoA synthase) gene coding for a bifunctional mitochondrial enzyme, which catalyses the final steps of CoA biosynthesis. These two inborn errors of CoA metabolism further support the concept that dysfunctions in CoA synthesis may play a crucial role in the pathogenesis of NBIA.
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Conference Article|
August 11 2014
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes
Paola Venco;
Paola Venco
*Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute ‘Carlo Besta’, 20126 Milan, Italy
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Sabrina Dusi;
Sabrina Dusi
*Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute ‘Carlo Besta’, 20126 Milan, Italy
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Lorella Valletta;
Lorella Valletta
*Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute ‘Carlo Besta’, 20126 Milan, Italy
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Valeria Tiranti
Valeria Tiranti
1
*Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute ‘Carlo Besta’, 20126 Milan, Italy
1To whom correspondence should be addressed (email:tiranti@istituto-besta.it).
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Publisher: Portland Press Ltd
Received:
April 22 2014
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2014 Biochemical Society
2014
Biochem Soc Trans (2014) 42 (4): 1069–1074.
Article history
Received:
April 22 2014
Citation
Paola Venco, Sabrina Dusi, Lorella Valletta, Valeria Tiranti; Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes. Biochem Soc Trans 1 August 2014; 42 (4): 1069–1074. doi: https://doi.org/10.1042/BST20140106
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