Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
- Wang, Cheng
- Li, Yulei
- Shi, Lei
- Ren, Jie
- Patti, Monica
- Wang, Tao
- de Oliveira, João R M
- Sobrido, María-Jesús
- Quintáns, Beatriz
- Baquero, Miguel
- Cui, Xiaoniu
- Zhang, Xiang-Yang
- Wang, Lianqing
- Xu, Haibo
- Wang, Junhan
- Yao, Jing
- Dai, Xiaohua
- Liu, Juan
- Zhang, Lu
- Ma, Hongying
- Gao, Yong
- Ma, Xixiang
- Feng, Shenglei
- Liu, Mugen
- Wang, Qing K
- Forster, Ian C
- Zhang, Xue
- Liu, Jing-Yu
2012
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- Autor(en) / Beteiligte
- Wang, Cheng
- Li, Yulei
- Shi, Lei
- Ren, Jie
- Patti, Monica
- Wang, Tao
- de Oliveira, João R M
- Sobrido, María-Jesús
- Quintáns, Beatriz
- Baquero, Miguel
- Cui, Xiaoniu
- Zhang, Xiang-Yang
- Wang, Lianqing
- Xu, Haibo
- Wang, Junhan
- Yao, Jing
- Dai, Xiaohua
- Liu, Juan
- Zhang, Lu
- Ma, Hongying
- Gao, Yong
- Ma, Xixiang
- Feng, Shenglei
- Liu, Mugen
- Wang, Qing K
- Forster, Ian C
- Zhang, Xue
- Liu, Jing-Yu
- Titel
- Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
- Ist Teil von
- Nature genetics, 2012-03, Vol.44 (3), p.254-256
- Ort / Verlag
- New York: Nature Publishing Group US
- Erscheinungsjahr
- 2012
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body. Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2 , encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng.1077Titel-ID: cdi_pubmed_primary_22327515
- Format
- –
- Schlagworte
- 631/208/2489/144, 631/208/737, Agriculture, Animal Genetics and Genomics, Animals, Asian Continental Ancestry Group, Basal Ganglia Diseases - genetics, Basal Ganglia Diseases - metabolism, Base Sequence, Biological and medical sciences, Biomedical and Life Sciences, Biomedicine, brief-communication, Calcification, Calcinosis - genetics, Calcinosis - metabolism, Cancer Research, Chromosomes, Human, Pair 8 - genetics, Dementia disorders, Disease, Fundamental and applied biological sciences. Psychology, Gene Function, Gene mutations, Genealogy, Genes, Genetic aspects, Genetic Linkage, Genetic Markers - genetics, Genetics, Genetics of eukaryotes. Biological and molecular evolution, Genomes, Health aspects, Homeostasis, Homeostasis - genetics, Homeostasis - physiology, Human Genetics, Humans, Lod Score, Medical imaging, Molecular Sequence Data, Mutation, Mutation, Missense - genetics, Oocytes - metabolism, Pedigree, Phosphates, Phosphates - metabolism, Physiological aspects, Sequence Analysis, DNA, Sodium-Phosphate Cotransporter Proteins, Type III - genetics, Xenopus laevis