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A role for KCC3 in maintaining cell volume of peripheral nerve fibers
- Source :
- Neurochemistry international
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- The potassium chloride cotransporter, KCC3, is an electroneutral cotransporter expressed in the peripheral and central nervous system. KCC3 is responsible for the efflux of K+ and Cl− in neurons to help maintain cell volume and intracellular chloride levels. A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. A variety of mouse models have been created to understand the physiological and deleterious effects of a KCC3 LOF. Though this KCC3 LOF in mouse models has recapitulated the peripheral neuropathy phenotype of HMSN/ACC, we still know little about the development of the disease pathophysiology. Interestingly, the most recent KCC3 mouse model that we created recapitulated a peripheral neuropathy-like phenotype originating from a KCC3 gain-of-function (GOF). Despite the past two decades of research in attempting to understand the role of KCC3 in disease, we still do not understand how dysfunction of this cotransporter can lead to the pathophysiology of peripheral neuropathy. This review focuses on the function of KCC3 in neurons and its role in human and health and disease.
- Subjects :
- 0301 basic medicine
Peripheral neuropathy
KCC3
Population
Central nervous system
Biology
Article
03 medical and health sciences
Cellular and Molecular Neuroscience
Nerve Fibers
0302 clinical medicine
Andermann syndrome
T991A
ACCPN
medicine
Animals
Humans
education
Agenesis of the corpus callosum
Cell Size
education.field_of_study
Symporters
Brain
Cell Biology
medicine.disease
Phenotype
Disease Models, Animal
HMSN/ACC
030104 developmental biology
medicine.anatomical_structure
Cotransporter
Neuroscience
030217 neurology & neurosurgery
Intracellular
Subjects
Details
- ISSN :
- 01970186
- Volume :
- 123
- Database :
- OpenAIRE
- Journal :
- Neurochemistry International
- Accession number :
- edsair.doi.dedup.....f005dfe6631454390ae648645879260b