SNX10基因突变对常染色体隐性骨质硬化症及其并发症的影响
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摘要
常染色体隐性骨质硬化症是一种由破骨细胞功能障碍所导致的恶性遗传疾病。该病通常在患儿出生后不久就出现,具有较高的死亡率。然而,本病临床表现多样,并发症复杂,常出现误诊。因此,迫切需要深入研究该病的发病机制以更好地服务于临床诊断和治疗,以提高患者生存率和生存质量。有关常染色体隐性骨质硬化症的分子研究直至2000年才开始,目前发现该病的遗传基础为包括SNX10基因在内的7种基因突变。该文通过查阅近年来SNX10基因与常染色体隐性骨质硬化症及其并发症的相关研究文献,综述SNX10基因突变对破骨细胞骨吸收功能的影响,为SNX10基因调控常染色体隐性骨质硬化症的病理机制研究提供参考。
Autosomal recessive osteopetrosis(ARO) is a malignant genetic disease caused by osteoclast dysfunction.The disease usually occurs shortly after the birth of the children. The mortality rate of that is relatively high. Due to various clinical manifestations and complicated complications, the disease is often misdiagnosed. Therefore, further study of the pathogenesis of the disease is necessary to make better clinical diagnosis and treatment better and improve patients' quality of life. The molecular study of ARO did not begin until 2000. The genetic basis of the disease is currently found to be seven genetic mutations including SNX10. In this paper, We summarized the effects of SNX10 gene mutation on bone resorption function of osteoclasts by reviewing the recent studies on SNX10 and ARO and its complications, which can provide a reference for the pathological mechanism study of SNX10 regulating ARO.
Autosomal recessive osteopetrosis(ARO) is a malignant genetic disease caused by osteoclast dysfunction.The disease usually occurs shortly after the birth of the children. The mortality rate of that is relatively high. Due to various clinical manifestations and complicated complications, the disease is often misdiagnosed. Therefore, further study of the pathogenesis of the disease is necessary to make better clinical diagnosis and treatment better and improve patients' quality of life. The molecular study of ARO did not begin until 2000. The genetic basis of the disease is currently found to be seven genetic mutations including SNX10. In this paper, We summarized the effects of SNX10 gene mutation on bone resorption function of osteoclasts by reviewing the recent studies on SNX10 and ARO and its complications, which can provide a reference for the pathological mechanism study of SNX10 regulating ARO.
引文
[1]Xu J,Zhang L,Ye Y,et al.SNX16 regulates the recycling of E-cadherin through a unique mechanism of coordinated membrane and cargo binding.Structure,2017,25:1251-63
[2]Worby CA,Dixon JE.Sorting out the cellular functions of sorting nexins.Nat Rev Mol Cell Biol,2002,3:919-31
[3]Cullen PJ,Korswagen HC.Sorting nexins provide diversity for retromer-dependent trafficking events.Nat Cell Biol,2011,14:29-37
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[7]Stark Z,Pangrazio A,McGillivray G,et al.Association of severe autosomal recessive osteopetrosis and structural brain abnormalities:a case report and review of the literature.Eur J Med Genet,2013,56:36-8
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[9]Kornak U,Kasper D,Bosl MR,et al.Loss of the ClC-7chloride channel leads to osteopetrosis in mice and man.Cell,2001,104:205-15
[10]Pangrazio A,Fasth A,Sbardellati A,et al.SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.J Bone Miner Res,2013,28:1041-9
[11]Stattin EL,Henning P,Klar J,et al.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Sci Rep,2017,7:3012
[12]Aker M,Rouvinski A,Hashavia S,et al.An SNX10mutation causes malignant osteopetrosis of infancy.J Med Genet,2012,49:221-6
[13]Megarbane A,Pangrazio A,Villa A,et al.Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Eur J Med Genet,2013,56:32-5
[14]Xu M,Stattin EL,Murphy M,et al.Generation of induced pluripotent stem cells(ARO-iPSC1-11)from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.Stem Cell Res,2017,24:51-4
[15]Xu T,Xu J,Ye Y,et al.Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.Proteins,2014,82:3483-9
[16]李婉贞,游艳,彭锦春,等.Sorting nexin 10缺失对小鼠巨噬细胞功能的影响.中国药理学通报,2016,32:84-9
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[18]You Y,Zhou C,Li D,et al.Sorting nexin 10 acting as a novel regulator of macrophage polarization mediates inflammatory response in experimental mouse colitis.Sci Rep,2016,6:20630
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[21]Al-Tamimi YZ,Tyagi AK,Chumas PD,et al.Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding.JNeurosurg Pediatr,2008,1:103-6
[22]Dozier TS,Duncan IM,Klein AJ,et al.Otologic manifestations of malignant osteopetrosis.Otol Neurotol,2005,26:762-6
[23]庞倩倩,董进,夏维波.骨硬化症研究进展.中华骨质疏松和骨矿盐疾病杂志,2014,7:82-90
[24]Sobacchi C,Schulz A,Coxon FP,et al.Osteopetrosis:genetics,treatment and new insights into osteoclast function.Nat Rev Endocrinol,2013,9:522-36
[25]Li YP,Chen W,Liang Y,et al.Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.Nat Genet,1999,23:447-51
[26]Shamriz O,Shaag A,Yaacov B,et al.The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.Clin Genet,2017,92:80-5
[27]Manolagas SC.Birth and death of bone cells:basic regulatory mechanisms and implications for the pathogenesis and treatment of osteoporosis.Endocr Rev,2000,21:115-37
[28]Novack DV,Teitelbaum SL.The osteoclast:friend or foe?Annu Rev Pathol,2008,3:457-84
[29]Coxon FP,Taylor A.Vesicular trafficking in osteoclasts.Semin Cell Dev Biol,2008,19:424-33
[30]Stenbeck G.Formation and function of the ruffled border in osteoclasts.Semin Cell Dev Biol,2002,13:285-92
[31]Blair HC,Teitelbaum SL,Ghiselli R,et al.Osteoclastic bone resorption by a polarized vacuolar proton pump.Science,1989,245:855-7
[32]Chen Y,Wu B,Xu L,et al.A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo.Cell Res,2012,22:333-45
[33]Zhu CH,Morse LR,Battaglino RA.SNX10 is required for osteoclast formation and resorption activity.J Cell Biochem,2012,113:1608-15
[34]Zhou C,You Y,Shen W,et al.Deficiency of sorting nexin10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation.Ann Rheum Dis,2016,75:1211-8
[35]Tilg H,Moschen AR,Kaser A,et al.Gut,inflammation and osteoporosis:basic and clinical concepts.Gut,2008,57:684-94
[36]Viatte S,Plant D,Bowes J,et al.Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients.Ann Rheum Dis,2012,71:1984-90
[37]Karsenty G,Oury F.Biology without walls:the novel endocrinology of bone.Annu Rev Physiol,2012,74:87-105
[38]Villa A,Guerrini MM,Cassani B,et al.Infantile malignant,autosomal recessive osteopetrosis:the rich and the poor.Calcif Tissue Int,2009,84:1-12
[39]Kaplan FS,August CS,Dalinka MK,et al.Bone densitometry observations of osteopetrosis in response to bone marrow transplantation.Clin Orthop Relat Res,1993,294:79-84
[40]Kaplan FS,August CS,Fallon MD,et al.Osteopetrorickets.The paradox of plenty.Pathophysiology and treatment.Clin Orthop Relat Res,1993,294:64-78
[41]Demirel F,Esen I,Tunc B,et al.Scarcity despite wealth:osteopetrorickets.J Pediatr Endocrinol Metab,2010,23:931-4
[42]Biyyam DR,Done S.Osteopetrorickets:infantile malignant osteopetrosis paradoxically complicated by rickets.Pediatr Radiol,2010,40:782
[43]Bright NA,Gratian MJ,Luzio JP.Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells.Curr Biol,2005,15:360-5
[44]Zigmond E,Jung S.Intestinal macrophages:well educated exceptions from the rule.Trends Immunol,2013,34:162-8
[45]Luzio JP,Pryor PR,Bright NA.Lysosomes:fusion and function.Nat Rev Mol Cell Biol,2007,8:622-32
[46]Ali T,Lam D,Bronze MS,et al.Osteoporosis in inflammatory bowel disease.Am J Med,2009,122:599-604
[47]Russell DG,Vanderven BC,Glennie S,et al.The macrophage marches on its phagosome:dynamic assays of phagosome function.Nat Rev Immunol,2009,9:594-600
[48]Shaughnessy LM,Swanson JA.The role of the activated macrophage in clearing Listeria monocytogenes infection.Front Biosci,2007,12:2683-92
[49]Huotari J,Helenius A.Endosome maturation.EMBO J,2011,30:3481-500
[50]Lou J,Li X,Huang W,et al.SNX10 promotes phagosome maturation in macrophages and protects mice against Listeria monocytogenes infection.Oncotarget,2017,8:53935-47
[2]Worby CA,Dixon JE.Sorting out the cellular functions of sorting nexins.Nat Rev Mol Cell Biol,2002,3:919-31
[3]Cullen PJ,Korswagen HC.Sorting nexins provide diversity for retromer-dependent trafficking events.Nat Cell Biol,2011,14:29-37
[4]Qin B,He M,Chen X,et al.Sorting nexin 10 induces giant vacuoles in mammalian cells.J Biol Chem,2006,281:36891-6
[5]Sobacchi C,Frattini A,Orchard P,et al.The mutational spectrum of human malignant autosomal recessive osteopetrosis.Hum Mol Genet,2001,10:1767-73
[6]Zhang XY,He JW,Fu WZ,et al.Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis(ARO)in four Chinese families.Acta Pharmacol Sin,2017,38:1456-65
[7]Stark Z,Pangrazio A,McGillivray G,et al.Association of severe autosomal recessive osteopetrosis and structural brain abnormalities:a case report and review of the literature.Eur J Med Genet,2013,56:36-8
[8]Frattini A,Orchard PJ,Sobacchi C,et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.Nat Genet,2000,25:343-6
[9]Kornak U,Kasper D,Bosl MR,et al.Loss of the ClC-7chloride channel leads to osteopetrosis in mice and man.Cell,2001,104:205-15
[10]Pangrazio A,Fasth A,Sbardellati A,et al.SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.J Bone Miner Res,2013,28:1041-9
[11]Stattin EL,Henning P,Klar J,et al.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Sci Rep,2017,7:3012
[12]Aker M,Rouvinski A,Hashavia S,et al.An SNX10mutation causes malignant osteopetrosis of infancy.J Med Genet,2012,49:221-6
[13]Megarbane A,Pangrazio A,Villa A,et al.Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Eur J Med Genet,2013,56:32-5
[14]Xu M,Stattin EL,Murphy M,et al.Generation of induced pluripotent stem cells(ARO-iPSC1-11)from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.Stem Cell Res,2017,24:51-4
[15]Xu T,Xu J,Ye Y,et al.Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.Proteins,2014,82:3483-9
[16]李婉贞,游艳,彭锦春,等.Sorting nexin 10缺失对小鼠巨噬细胞功能的影响.中国药理学通报,2016,32:84-9
[17]Zhou C,Wang Y,Peng J,et al.SNX10 plays a critical role in MMP9 secretion via JNK-p38-ERK signaling pathway.J Cell Biochem,2017,118:4664-71
[18]You Y,Zhou C,Li D,et al.Sorting nexin 10 acting as a novel regulator of macrophage polarization mediates inflammatory response in experimental mouse colitis.Sci Rep,2016,6:20630
[19]Ye L,Morse LR,Zhang L,et al.Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.PLoS Genet,2015,11:e1005057
[20]Zhang X,Wei Z,He J,et al.Novel mutations of CLCN7cause autosomal dominant osteopetrosis type Ⅱ(ADOⅡ)and intermediate autosomal recessive osteopetrosis(ARO)in seven Chinese families.Postgrad Med,2017,129:934-42
[21]Al-Tamimi YZ,Tyagi AK,Chumas PD,et al.Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding.JNeurosurg Pediatr,2008,1:103-6
[22]Dozier TS,Duncan IM,Klein AJ,et al.Otologic manifestations of malignant osteopetrosis.Otol Neurotol,2005,26:762-6
[23]庞倩倩,董进,夏维波.骨硬化症研究进展.中华骨质疏松和骨矿盐疾病杂志,2014,7:82-90
[24]Sobacchi C,Schulz A,Coxon FP,et al.Osteopetrosis:genetics,treatment and new insights into osteoclast function.Nat Rev Endocrinol,2013,9:522-36
[25]Li YP,Chen W,Liang Y,et al.Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.Nat Genet,1999,23:447-51
[26]Shamriz O,Shaag A,Yaacov B,et al.The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.Clin Genet,2017,92:80-5
[27]Manolagas SC.Birth and death of bone cells:basic regulatory mechanisms and implications for the pathogenesis and treatment of osteoporosis.Endocr Rev,2000,21:115-37
[28]Novack DV,Teitelbaum SL.The osteoclast:friend or foe?Annu Rev Pathol,2008,3:457-84
[29]Coxon FP,Taylor A.Vesicular trafficking in osteoclasts.Semin Cell Dev Biol,2008,19:424-33
[30]Stenbeck G.Formation and function of the ruffled border in osteoclasts.Semin Cell Dev Biol,2002,13:285-92
[31]Blair HC,Teitelbaum SL,Ghiselli R,et al.Osteoclastic bone resorption by a polarized vacuolar proton pump.Science,1989,245:855-7
[32]Chen Y,Wu B,Xu L,et al.A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo.Cell Res,2012,22:333-45
[33]Zhu CH,Morse LR,Battaglino RA.SNX10 is required for osteoclast formation and resorption activity.J Cell Biochem,2012,113:1608-15
[34]Zhou C,You Y,Shen W,et al.Deficiency of sorting nexin10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation.Ann Rheum Dis,2016,75:1211-8
[35]Tilg H,Moschen AR,Kaser A,et al.Gut,inflammation and osteoporosis:basic and clinical concepts.Gut,2008,57:684-94
[36]Viatte S,Plant D,Bowes J,et al.Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients.Ann Rheum Dis,2012,71:1984-90
[37]Karsenty G,Oury F.Biology without walls:the novel endocrinology of bone.Annu Rev Physiol,2012,74:87-105
[38]Villa A,Guerrini MM,Cassani B,et al.Infantile malignant,autosomal recessive osteopetrosis:the rich and the poor.Calcif Tissue Int,2009,84:1-12
[39]Kaplan FS,August CS,Dalinka MK,et al.Bone densitometry observations of osteopetrosis in response to bone marrow transplantation.Clin Orthop Relat Res,1993,294:79-84
[40]Kaplan FS,August CS,Fallon MD,et al.Osteopetrorickets.The paradox of plenty.Pathophysiology and treatment.Clin Orthop Relat Res,1993,294:64-78
[41]Demirel F,Esen I,Tunc B,et al.Scarcity despite wealth:osteopetrorickets.J Pediatr Endocrinol Metab,2010,23:931-4
[42]Biyyam DR,Done S.Osteopetrorickets:infantile malignant osteopetrosis paradoxically complicated by rickets.Pediatr Radiol,2010,40:782
[43]Bright NA,Gratian MJ,Luzio JP.Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells.Curr Biol,2005,15:360-5
[44]Zigmond E,Jung S.Intestinal macrophages:well educated exceptions from the rule.Trends Immunol,2013,34:162-8
[45]Luzio JP,Pryor PR,Bright NA.Lysosomes:fusion and function.Nat Rev Mol Cell Biol,2007,8:622-32
[46]Ali T,Lam D,Bronze MS,et al.Osteoporosis in inflammatory bowel disease.Am J Med,2009,122:599-604
[47]Russell DG,Vanderven BC,Glennie S,et al.The macrophage marches on its phagosome:dynamic assays of phagosome function.Nat Rev Immunol,2009,9:594-600
[48]Shaughnessy LM,Swanson JA.The role of the activated macrophage in clearing Listeria monocytogenes infection.Front Biosci,2007,12:2683-92
[49]Huotari J,Helenius A.Endosome maturation.EMBO J,2011,30:3481-500
[50]Lou J,Li X,Huang W,et al.SNX10 promotes phagosome maturation in macrophages and protects mice against Listeria monocytogenes infection.Oncotarget,2017,8:53935-47