Generation of a new Slc20a2 knockout mouse line as in vivo model for primary brain calcification

Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80(2):181–7.

CAS  PubMed  Google Scholar 

Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013;45(9):1077–82.

CAS  PubMed  Google Scholar 

Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015;47(6):579–81.

CAS  PubMed  PubMed Central  Google Scholar 

Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, et al. Biallelic mutations in MYORG cause autosomal recessive primary Familial brain calcification. Neuron. 2018;98(6):1116–23. e1115.

CAS  PubMed  Google Scholar 

Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, et al. Biallelic loss-of-function mutations in JAM2 cause primary Familial brain calcification. Brain. 2020;143(2):491–502.

PubMed  Google Scholar 

Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervag A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, et al. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary Familial brain calcifications. Nat Commun. 2024;15(1):2269.

CAS  PubMed  PubMed Central  Google Scholar 

Jensen N, Schroder HD, Hejbol EK, Fuchtbauer EM, de Oliveira JR, Pedersen L. Loss of function of Slc20a2 associated with Familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice. J Mol Neurosci. 2013;51(3):994–9.

CAS  PubMed  PubMed Central  Google Scholar 

Zhao M, Cheng X, Chen L, Zeng YH, Lin KJ, Li YL, Zheng ZH, Huang XJ, Zuo DD, Guo XX, et al. Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model. Neuron. 2024;112(19):3278–94. e3277.

CAS  PubMed  Google Scholar 

Cheng X, Zhao M, Chen L, Huang C, Xu Q, Shao J, Wang HT, Zhang Y, Li X, Xu X, et al. Astrocytes modulate brain phosphate homeostasis via polarized distribution of phosphate uptake transporter PiT2 and exporter XPR1. Neuron. 2024;112(18):3126–42. e3128.

CAS  PubMed  Google Scholar 

Jensen N, Schroder HD, Hejbol EK, Thomsen JS, Bruel A, Larsen FT, Vinding MC, Orlowski D, Fuchtbauer EM, Oliveira JRM, et al. Mice knocked out for the primary brain calcification-associated gene Slc20a2 show unimpaired prenatal survival but retarded growth and nodules in the brain that grow and calcify over time. Am J Pathol. 2018;188(8):1865–81.

CAS  PubMed  Google Scholar 

Nahar K, Lebouvier T, Andaloussi Mae M, Konzer A, Bergquist J, Zarb Y, Johansson B, Betsholtz C, Vanlandewijck M. Astrocyte-microglial association and matrix composition are common events in the natural history of primary Familial brain calcification. Brain Pathol. 2020;30(3):446–64.

CAS  PubMed  Google Scholar 

Manyam BV. What is and what is not ‘fahr’s disease’. Parkinsonism Relat Disord. 2005;11(2):73–80.

PubMed  Google Scholar 

Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, Uchiyama A, Ikeuchi T, Takahashi H, Kakita A. Familial idiopathic basal ganglia calcification: histopathologic features of an autopsied patient with an SLC20A2 mutation. Neuropathology. 2016;36(4):365–71.

CAS  PubMed  Google Scholar 

Comments (0)

No login
gif