PKAN pathogenesis and treatment

Susan J Hayflick; Suh Young Jeong; Ody C M Sibon

doi:10.1016/j.ymgme.2022.09.011

PKAN pathogenesis and treatment

Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5.

Authors

Susan J Hayflick¹, Suh Young Jeong², Ody C M Sibon³

Affiliations

¹ Departments of Molecular & Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: [email protected].
² Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
³ Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, 9713 AV, the Netherlands.

Abstract

Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

Keywords: Brain iron; Coenzyme A; Mitochondrial acyl carrier protein; PKAN; Pantothenate kinase; Phosphopantetheinylation.

Publication types

Review
Research Support, N.I.H., Extramural

MeSH terms

Coenzyme A / metabolism
Humans
Pantothenate Kinase-Associated Neurodegeneration*
Phosphotransferases (Alcohol Group Acceptor) / genetics
Phosphotransferases (Alcohol Group Acceptor) / metabolism

Substances

Coenzyme A
Phosphotransferases (Alcohol Group Acceptor)

Abstract

Publication types

MeSH terms

Substances

Grants and funding