Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 20, Issue 2, Pages -Publisher
MDPI
DOI: 10.3390/ijms20020403
Keywords
GDAP1; recessive mutations; store operated calcium entry; mitochondrial location; calcium regulated cell respiration
Funding
- Spanish Ministry of Science, Innovation and Universities [SAF2014-56929-R, SAF2017-82560-R, SAF2015-66625-R]
- IRDiRC
- Instituto de Salud Carlos III (ISCIII) [IR11/TREAT-CMT]
- Fundacion Ramon Areces
- Generalitat de Catalunya [2015 FEDER/S-21]
- CIBERER, an initiative from the ISCIII
- Comunidad de Madrid
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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.
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