特发性基底节钙化致病的分子机制

doi:10.16288/j.yczz.15-033

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HEREDITAS(Beijing) ›› 2015, Vol. 37 ›› Issue (8): 731-740.doi: 10.16288/j.yczz.15-033

Molecular mechanism of idiopathic basal ganglia calcification

Cheng Wang¹, Xuan Xu¹,Lulu Li¹, Tao Wang², Min Zhang³,Lu Shen⁴, Beisha Tang⁴,Jingyu Liu¹

1. Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China;
2. Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China;
3. Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China;
4. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China

Online:2015-08-20 Published:2015-08-20

Abstract

Abstract: Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease, is an inheritable neurodegenerative syn-drome characterized by mineral deposits in the basal ganglia and other brain regions. Patients with IBGC are often accompa-nied with movement disorders, cognitive impairment as well as psychiatric abnormalities. So far, no therapeutic drug has been developed for the treatment of IBGC. Recently, genetic studies have identified several genes associated with IBGC, including SLC20A2, PDGFRB, PDGFB, ISG15 and XPR1. Loss-of-function mutations in these genes have been associated with dis-turbance in phosphate homeostasis in brain regions, the dysfunction of blood-brain barrier as well as enhanced IFN-?/??immunity. In this review, we summarize the latest research progress in the studies on molecular genetics of IBGC, and discuss the molecular mechanisms underlying the pathophysiology of mutations of different genes.

Key words: IBGC, SLC20A2, PDGFRB, PDGFB, ISG15, XPR1

Cheng Wang, Xuan Xu, Lulu Li, Tao Wang, Min Zhang, Lu Shen, Beisha Tang, Jingyu Liu. Molecular mechanism of idiopathic basal ganglia calcification[J]. HEREDITAS(Beijing), 2015, 37(8): 731-740.

References

[1] Nicolas G, Pottier C, Charbonnier C, Guyant-Marechal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltete D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvee M, Verin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain, 2013, 136(Pt 11): 3395–3407.
[2] Yamada M, Asano T, Okamoto K, Hayashi Y, Kanematsu M, Hoshi H, Akaiwa Y, Shimohata T, Nishizawa M, Inuzuka T, Hozumi I. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int, 2013, 13(3): 706–710.
[3] Simoni M, Pantoni L, Pracucci G, Palmertz B, Guo X, Gustafson D, Skoog I. Prevalence of CT-detected cerebral abnormalities in an elderly Swedish population sample. Acta Neurol Scand, 2008, 118(4): 260–267.
[4] Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord, 2005, 11(2): 73–80.
[5] Lemos RR, Ferreira JB, Keasey MP, Oliveira JR. An update on primary familial brain calcification. Int Rev Neurobiol, 2013, 110: 349–371.
[6] Wang C, Li YL, Shi L, Ren J, Patti M, Wang T, de Oliveira JRM, Sobrido MJ, Quintans B, Baquero M, Cui XN, Zhang XY, Wang LQ, Xu HB, Wang JH, Yao J, Dai XH, Liu J, Zhang L, Ma HY, Gao Y, Ma XX, Feng SL, Liu MG, Wang QK, Forster IC, Zhang X, Liu JY. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet, 2012, 44(3): 254–256.
[7] Zhang XQ, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer S D, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen CY, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu WQ, Han TT, Liu DL, Ma T, Wang B, Liu MG, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, Garcia-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow Y J, Boisson-Dupuis S, Casanova J L, Pellegrini S. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature, 2015, 517(7532): 89–93.
[8] Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology, 2013, 80(2): 181–187.
[9] Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet, 2013, 45(9): 1077–1082.
[10] Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetch-aphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M. Mutations in XPR1 cause primary familial b

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Molecular mechanism of idiopathic basal ganglia calcification

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