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. 2021 Sep 13;7(1):83.
doi: 10.1038/s41421-021-00322-w.

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Hong-Fu Li #  1 , Yu-Lan Chen #  1 , Ling Zhuang #  2   3 , Dian-Fu Chen  1 , Hua-Zhen Ke  1 , Wen-Jiao Luo  1 , Gong-Lu Liu  4 , Sheng-Nan Wu  5 , Wen-Hao Zhou  6 , Zhi-Qi Xiong  7   8 , Zhi-Ying Wu  9
Affiliations

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Hong-Fu Li et al. Cell Discov. .

Erratum in

No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
a The pedigree structure and segregation analyses of Families 1–3 and sequencing chromatograms of the identified TMEM151A variants. The upper chromatogram represents the normal sequence, and the lower represents the variant. Square: male; circle: female; arrow: index patient; filled symbol: affected; open symbol: unaffected; +: wild-type allele. b Sequencing chromatograms of TMEM151A variants identified in eight isolated PKD patients. c Relative expression level of Tmem151a mRNA in various organs of 2-month-old mice. The expression level in the heart was used as a calibration (means ± SEM, n = 3). d Relative expression level of Tmem151a mRNA in the developing mouse brain. The expression level in P0 was used as a calibration (means ± SEM, n = 3). e Relative expression level of Tmem151a mRNA in different regions of the central nervous system. The expression level in the olfactory bulb was used as a calibration (means ± SEM, n = 3). f In situ hybridization for Tmem151a in the P14 mouse spinal cord. Scale bar, 200 µm. g, h In situ hybridization for Tmem151a in the P14 mouse brain. Ctx cortex, Hip hippocampus, Ob olfactory bulb, Crb cerebellum, Tha thalamus, DG dentate gyrus, ML molecular layer, GCL granule cell layer, WM white matter. Roman numerals (I–VI) indicate layers of the cerebral cortex. Scale bar, 500 µm in g, 100 µm in h. i, j Fluorescence images of COS-7 cells (i) and primary cortical neurons (j) transfected with EGFP-tagged Tmem151a and immunostained with antibodies against GFP (green) and either the ER marker calnexin (red) or anti-Tau1 antibodies (axon marker, red). DAPI (blue) was used for nuclear staining. Scale bar, 10 µm. k Western blots of protein obtained from HEK293T cells transfected with WT and mutant pIRES2-Flag-TMEM151A plasmids. The anti-Flag antibody was used to detect the TMEM151A protein. The GFP was used to measure the transfection efficiency and served as an internal control. Bar graph shows protein expression level. Data are presented as means ± SD, n = 3, ****P < 0.0001. l The number of dyskinesia attacks in WT, heterozygous Tmem151a+/−, and homozygous Tmem151a−/− mice in 48 h. m Duration of spontaneous dyskinesia attacks in Tmem151a−/− mice. One dot represents one observed attack. n Representative images of dyskinesia attacks in a Tmem151a−/− mouse.
See this image and copyright information in PMC

References

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