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Open AccessReview

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), 28006 Madrid, Spain
Instituto de Recerca Sant Joan de Déu and Hospital Sant Joan de Déu, 08950 Barcelona, Spain
Division of Pediatrics, University of Barcelona School of Medicine, 08036 Barcelona, Spain
Facultad de Ciencias Ambientales y Bioquímica, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla la Mancha, 45600 Toledo, Spain
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(2), 403;
Received: 18 December 2018 / Revised: 11 January 2019 / Accepted: 12 January 2019 / Published: 18 January 2019
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
The pathology of Charcot-Marie-Tooth (CMT), a disease arising from mutations in different genes, has been associated with an impairment of mitochondrial dynamics and axonal biology of mitochondria. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause several forms of CMT neuropathy, but the pathogenic mechanisms involved remain unclear. GDAP1 is an outer mitochondrial membrane protein highly expressed in neurons. It has been proposed to play a role in different aspects of mitochondrial physiology, including mitochondrial dynamics, oxidative stress processes, and mitochondrial transport along the axons. Disruption of the mitochondrial network in a neuroblastoma model of GDAP1-related CMT has been shown to decrease Ca2+ entry through the store-operated calcium entry (SOCE), which caused a failure in stimulation of mitochondrial respiration. In this review, we summarize the different functions proposed for GDAP1 and focus on the consequences for Ca2+ homeostasis and mitochondrial energy production linked to CMT disease caused by different GDAP1 mutations. View Full-Text
Keywords: GDAP1; recessive mutations; store operated calcium entry; mitochondrial location; calcium regulated cell respiration GDAP1; recessive mutations; store operated calcium entry; mitochondrial location; calcium regulated cell respiration
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González-Sánchez, P.; Satrústegui, J.; Palau, F.; del Arco, A. Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease. Int. J. Mol. Sci. 2019, 20, 403.

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