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Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production

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收录情况： ◇ SCIE

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机构： [1]State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China. [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute [3] MOE Key Laboratory of Major Diseases in Children [4] Genetics and Birth Defects Control Center, National Center for Children’s Health [5] Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China. [3]University of Chinese Academy of Sciences, Beijing 100039, China. [4]Cell Signalling Research Centre, St. George’s, University of London, London SW17 0RE, UK. [5]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. [6]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing 101300, China.

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关键词： Melanosome Mitochondrion NCKX5 SLC24A5 Oculocutaneous albinism Pigment

摘要：

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.

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出版当年[2018]版：

大类 | 2 区

生物

小类 | 3 区细胞生物学

最新[2023]版：

大类 | 3 区生物学

小类 | 3 区细胞生物学

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出版当年[2017]版：

Q2 CELL BIOLOGY

最新[2023]版：

Q3 CELL BIOLOGY

影响因子： 3.3 最新[2023版] 3.9 最新五年平均 4.401 出版当年[2017版] 5.094 出版当年五年平均 4.431 出版前一年[2016版] 4.517 出版后一年[2018版]

第一作者：

第一作者机构： [1]State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China. [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute [3] MOE Key Laboratory of Major Diseases in Children [3]University of Chinese Academy of Sciences, Beijing 100039, China.

通讯作者：

通讯机构： [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute [5] Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China. [5]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. [6]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing 101300, China.

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Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production

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