Zhang, Z; Gong, J; Sviderskaya, EV; Wei, A; Li, W
(2019)
Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.
J Cell Sci, 132 (14).
jcs232009.
ISSN 1477-9137
https://doi.org/10.1242/jcs.232009
SGUL Authors: Sviderskaya, Elena Vladimirovna
Abstract
Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive hypopigmentation disorder, which is caused by mutations of genes involved in pigment biosynthesis or melanosome biogenesis. We have previously identified NCKX5 (also known as SLC24A5) as a causative gene for OCA type 6 (OCA6). However, the pathogenesis of OCA6 is unknown. We found that NCKX5 is localized to mitochondria, not to melanosomes. Pharmacological inhibition of mitochondrial function or NCKX exchanger activity reduced pigment production. Loss of NCKX5 attenuated Ca2+ enrichment in melanosomes, which compromised PMEL fibril formation, melanosome maturation and pigment production. Thus, we have defined a new class of hypopigmentation attributable to dysfunctional mitochondria and an impairment of mitochondrial Ca2+ transfer into melanosomes. Thus, it is possible that mitochondrial function could have a role in the graying of hair in older people and formation of hypopigmented lesions in vitiligo patients.
Item Type: |
Article
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Additional Information: |
© 2019. Published by The Company of Biologists Ltd |
Keywords: |
Melanosome, Mitochondrion, NCKX5, Oculocutaneous albinism, Pigment, SLC24A5, melanosome, mitochondrion, NCKX5/SLC24A5, oculocutaneous albinism, pigment, Melanosome, Mitochondrion, NCKX5/SLC24A5, Oculocutaneous albinism, Pigment, 06 Biological Sciences, 11 Medical And Health Sciences, Developmental Biology |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
Journal or Publication Title: |
J Cell Sci |
ISSN: |
1477-9137 |
Language: |
eng |
Dates: |
Date | Event |
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15 July 2019 | Published | 14 June 2019 | Published Online | 3 June 2019 | Accepted |
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Publisher License: |
Publisher's own licence |
Projects: |
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PubMed ID: |
31201282 |
Web of Science ID: |
WOS:000471804000005 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/110933 |
Publisher's version: |
https://doi.org/10.1242/jcs.232009 |
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