Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology

Human Mutation

Volumn 35, Issue 8, 2014, Pages 964-971

  Sanchez Contreras, Monica ^a   Baker, Matthew C ^a   Finch, Nicole A ^a   Nicholson, Alexandra ^a   Wojtas, Aleksandra ^a   Wszolek, Zbigniew K ^b   Ross, Owen A ^a   Dickson, Dennis W ^a   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Basal ganglia calcification; BGC; Fahr disease; IBGC; PDGFB; PDGFRB

Indexed keywords

PLATELET DERIVED GROWTH FACTOR B; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; PLATELET-DERIVED GROWTH FACTOR BB;

AGED; AUTOPSY; CALCINOSIS; DEGENERATIVE DISEASE; DNA SEQUENCE; DRUG EFFECTS; EXTRAPYRAMIDAL SYNDROME; GENE EXPRESSION; GENETIC SCREENING; GENETIC TRANSFECTION; GENETICS; HELA CELL LINE; HUMAN; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PHOSPHORYLATION; PROTEIN PROCESSING; VERY ELDERLY;

AGED; AGED, 80 AND OVER; AUTOPSY; BASAL GANGLIA DISEASES; CALCINOSIS; GENE EXPRESSION; GENETIC TESTING; HELA CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; PHOSPHORYLATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTO-ONCOGENE PROTEINS C-SIS; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 84904424055     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22582     Document Type: Article

References (33)

1. Andrae J, Gallini R, Betsholtz C. 2008. Role of platelet-derived growth factors in physiology and medicine. Genes Dev 22(10):1276-1312.
2. Armulik A, Genove G, Mae M, Nisancioglu MH, Wallgard E, Niaudet C, He L, Norlin J, Lindblom P, Strittmatter K, Johansson BR, Betsholtz C. 2010. Pericytes regulate the blood-brain barrier. Nature 468(7323):557-561.
3. Baker M, Strongosky A, Sanchez-Contreras M, Yang S, Ferguson W, Calne D, Calne S, Stoessl AJ, Allanson J, Broderick D, Hutton M, Dickson DW, et al. 2013. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics 1-8.
4. Collins J, Bai L, Ghishan F. 2004. The SLC20 family of proteins: dual functions as sodium-phosphate cotransporters and viral receptors. Pflügers Arch 447(5):647-652.
5. Crouthamel MH, Lau WL, Leaf EM, Chavkin NW, Wallingford MC, Peterson DF, Li X, Liu Y, Chin MT, Levi M, Giachelli CM. 2013. Sodium-dependent phosphate cotransporters and phosphate-induced calcification of vascular smooth muscle cells: redundant roles for PiT-1 and PiT-2. Arterioscler Thromb Vasc Biol 33(11):2625-2632.
6. Fantl WJ, Escobedo JA, Martin GA, Turck CW, del Rosario M, McCormick F, Williams LT. 1992. Distinct phosphotyrosines on a growth factor receptor bind to specific molecules that mediate different signaling pathways. Cell 69(3):413-423.
7. Franke TF, Yang S-I, Chan TO, Datta K, Kazlauskas A, Morrison DK, Kaplan DR, Tsichlis PN. 1995. The protein kinase encoded by the Akt proto-oncogene is a target of the PDGF-activated phosphatidylinositol 3-kinase. Cell 81(5):727-736.
8. Giachelli CM. 2009. The emerging role of phosphate in vascular calcification. Kidney Int 75(9):890-897.
9. Heldin C-H, Östman A, Rönnstrand L. 1998. Signal transduction via platelet-derived growth factor receptors. Biochim Biophys Acta 1378(1):F79-F113.
10. Hellström M, Gerhardt H, Kalén M, Li X, Eriksson U, Wolburg H, Betsholtz C. 2001. Lack of pericytes leads to endothelial hyperplasia and abnormal vascular morphogenesis. J Cell Biol 153(3):543-554.
11. Hsu S, Sears R, Lemos R, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce K, Fullerton JM, Adair JC, et al. 2013. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14(1):11-22.
12. Inden M, Iriyama M, Takagi M, Kaneko M, Hozumi I. 2013. Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain. Brain Res 1531(0):75-83.
13. Inui H, Kitami Y, Kondo T, Inagami T. 1993. Transduction of mitogenic activity of platelet-derived growth factor (PDGF) AB by PDGF-beta receptor without participation of PDGF-alpha receptor in vascular smooth muscle cells. J Biol Chem 268(23):17045-50.
14. Jobbagy Z, Olah Z, Petrovics G, Eiden MV, Leverett BD, Dean NM, Anderson WB. 1999. Up-regulation of the Pit-2 phosphate transporter/retrovirus receptor by protein kinase C ε. J Biol Chem 274(11):7067-7071.
15. Jono S, McKee MD, Murry CE, Shioi A, Nishizawa Y, Mori K, Morii H, Giachelli CM. 2000. Phosphate regulation of vascular smooth muscle cell calcification. Circ Res 87(7):e10-e17.
16. Kakita A, Suzuki A, Nishiwaki K, Ono Y, Kotake M, Ariyoshi Y, Miura Y, ltoh M, Oiso Y. 2004. Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells. Atherosclerosis 174(1):17-24.
17. Kasuga K, Konno T, Saito K, Ishihara A, Nishizawa M, Ikeuchi T. 2014. A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. J Neurol 261(1):242-244.
18. Keating MT, Williams LT. 1987. Processing of the platelet-derived growth factor receptor. Biosynthetic and degradation studies using anti-receptor antibodies. J Biol Chem 262(16):7932-7937.
19. Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JEG, Rushing EJ, Hugelshofer M, et al. 2013. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 45(9):1077-1082.
20. Kobayashi S, Yamadori I, Miki H, Ohmori M. 1987. Idiopathic nonarteriosclerotic cerebral calcification (Fahr's disease): an electron microscopic study. Acta Neuropathol 73(1):62-66.
21. Lemos RR, Oliveira MF, Oliveira JRM. 2013. Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. Eur J Neurol 20(3):e43-e44.
22. Lennartsson J, Burovic F, Witek B, Jurek A, Heldin C-H. 2010. Erk 5 is necessary for sustained PDGF-induced Akt phosphorylation and inhibition of apoptosis. Cell Signal 22(6):955-960.
23. Lindahl P, Johansson BR, Levéen P, Betsholtz C. 1997. Pericyte loss and microaneurysm formation in PDGF-B-deficient mice. Science 277(5323):242-245.
24. Martignetti John A, Tian L, Li D, Ramirez MCM, Camacho-Vanegas O, Camacho SC, Guo Y, Zand Dina J, Bernstein Audrey M, Masur Sandra K, et al. 2013. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 92(6):1001-1007.
25. Miklossy J, Mackenzie I, Dorovini-Zis K, Calne D, Wszolek Z, Klegeris A, McGeer P. 2005. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 109(6):643-653.
26. Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, et al. 2013. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 80(2):181-187.
27. Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, et al. 2014. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci 52(2):1-5.
28. Tallquist MD, French WJ, Soriano P. 2003. Additive effects of PDGF receptor β signaling pathways in vascular smooth muscle cell development. PLoS Biol 1(2):e52.
29. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, et al. 2012. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44(3):254-6.
30. Williams DR, de Silva R, Paviour DC, Pittman A, Watt HC, Kilford L, Holton JL, Revesz T, Lees AJ. 2005. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 128(Pt 6):1247-58.
31. Wszolek ZK, Baba Y, Mackenzie IR, Uitti RJ, Strongosky AJ, Broderick DF, Baker MC, Melquist S, Hutton ML, Tsuboi Y, Allanson JE, Carr J, et al. 2006. Autosomal dominant dystonia-plus with cerebral calcifications. Neurology 67(4):620-625.
32. Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, et al. 2014. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. Neurology 82(8):705-712.
33. Zhang Y, Guo X, Wu A. 2013. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS ONE 8(2):e57060.