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Review

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease

1
Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain
2
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
3
Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), 28006 Madrid, Spain
4
Instituto de Recerca Sant Joan de Déu and Hospital Sant Joan de Déu, 08950 Barcelona, Spain
5
Division of Pediatrics, University of Barcelona School of Medicine, 08036 Barcelona, Spain
6
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; https://doi.org/10.3390/ijms20020403
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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MDPI and ACS Style

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. https://doi.org/10.3390/ijms20020403

AMA Style

González-Sánchez P, Satrústegui J, Palau F, del Arco A. Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease. International Journal of Molecular Sciences. 2019; 20(2):403. https://doi.org/10.3390/ijms20020403

Chicago/Turabian Style

González-Sánchez, Paloma; Satrústegui, Jorgina; Palau, Francesc; del Arco, Araceli. 2019. "Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease" Int. J. Mol. Sci. 20, no. 2: 403. https://doi.org/10.3390/ijms20020403

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