The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.

Lee, Seong-Il; Hoeijmakers, Janneke G J; Faber, Catharina G; Merkies, Ingemar S J; Lauria, Giuseppe; Waxman, Stephen G

Lee, Seong-Il; Hoeijmakers, Janneke G J; Faber, Catharina G; Merkies, Ingemar S J; Lauria, Giuseppe; Waxman, Stephen G.

Affiliation

Lee SI; Department of Neurology, Yale University School of Medicine, New Haven, Connecticut.
Hoeijmakers JGJ; Center for Neuroscience and Regeneration Research, Veterans Affairs Connecticut Healthcare System, West Haven, Connecticut.
Faber CG; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.
Merkies ISJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.
Lauria G; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.
Waxman SG; Department of Neurology, Curaçao Medical Center, Willemstad, Curaçao.

J Neurophysiol ; 123(2): 645-657, 2020 02 01.

Article in En | MEDLINE | ID: mdl-31851560

Subject(s)

Adenosine Triphosphate/metabolism; Ganglia, Spinal; Mitochondria; NAV1.7 Voltage-Gated Sodium Channel/genetics; Neurites; Neurons; Neuroprotective Agents/pharmacology; Pramipexole/pharmacology; Small Fiber Neuropathy/metabolism; Animals; Biosensing Techniques; Cells, Cultured; Gain of Function Mutation; Ganglia, Spinal/drug effects; Ganglia, Spinal/metabolism; Humans; Mice; Mice, Inbred C57BL; Mitochondria/drug effects; Mitochondria/metabolism; Neurites/drug effects; Neurites/metabolism; Neurons/drug effects; Neurons/metabolism

Key words

NaV1.7; bioenergetics; gain of function; mitotoxicity; neuropathy

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Full text: 1 Database: MEDLINE Therapeutic Methods and Therapies TCIM: Terapias_energeticas / Bioenergetica Main subject: Adenosine Triphosphate / Neurites / Neuroprotective Agents / NAV1.7 Voltage-Gated Sodium Channel / Small Fiber Neuropathy / Pramipexole / Ganglia, Spinal / Mitochondria / Neurons Language: En Journal: J Neurophysiol Year: 2020 Type: Article

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