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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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October-2017 Volume 14 Issue 4

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

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Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

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Article

Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis

  • Authors:
    • Ying‑Ying Chen
    • Xiao‑Ying Wang
    • Qiu‑Xia Fu
    • Yi Kang
    • He‑Bin Yao

  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Chinese PLA Navy General Hospital, Beijing 100048, P.R. China, Outpatient Clinic of Chinese PLA Navy Headquarters, Beijing 100841, P.R. China, Field Blood Transfusion Institute, Chinese PLA Military Medical Science Academy, Beijing 100850, P.R. China
  • Pages: 3229-3232
    |
    Published online on: July 28, 2017
       https://doi.org/10.3892/etm.2017.4848
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Abstract

The pathogenesis of hypokalemic periodic paralysis (HypoPP) remains unclear. Though some mutations in skeletal muscle ion channels were revealed previously, the exact mechanism remains to be fully elucidated. Increased Na+/K+‑ATPase activity in skeletal muscle is postulated to contribute to attacks of HypoPP. Before the link between Na+/K+‑ATPase dysfunction and these ion channel mutations is established, mutations in Na+/K+‑ATPase and their regulators are the first to be excluded. Phospholemman, which is a protein encoded by the FXYD domain‑containing ion transport regulator 1 (FXYD1) gene, is predominantly expressed in skeletal muscle and is the major regulator of Na+/K+‑ATPase. Therefore, the aim of the present study was to determine the genetic involvement of phospholemman in HypoPP development. Genomic DNA was extracted from the peripheral blood of five HypoPP probands with typical manifestations. The coding exons of FXYD1, exons 2‑7, were polymerase chain reaction (PCR)‑amplified and sequenced. No mutations were detected in FXYD1 in any of the subjects studied. To conclude, mutations in phospholemman encoding genes may not be involved with HypoPP and the relationship between phospholemman and Na+/K+‑ATPase dysfunction in attacks of HypoPP requires further study.

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Copy and paste a formatted citation
Spandidos Publications style
Chen YY, Wang XY, Fu QX, Kang Y and Yao HB: Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis. Exp Ther Med 14: 3229-3232, 2017.
APA
Chen, Y., Wang, X., Fu, Q., Kang, Y., & Yao, H. (2017). Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis. Experimental and Therapeutic Medicine, 14, 3229-3232. https://doi.org/10.3892/etm.2017.4848
MLA
Chen, Y., Wang, X., Fu, Q., Kang, Y., Yao, H."Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis". Experimental and Therapeutic Medicine 14.4 (2017): 3229-3232.
Chicago
Chen, Y., Wang, X., Fu, Q., Kang, Y., Yao, H."Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis". Experimental and Therapeutic Medicine 14, no. 4 (2017): 3229-3232. https://doi.org/10.3892/etm.2017.4848
Copy and paste a formatted citation
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Spandidos Publications style
Chen YY, Wang XY, Fu QX, Kang Y and Yao HB: Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis. Exp Ther Med 14: 3229-3232, 2017.
APA
Chen, Y., Wang, X., Fu, Q., Kang, Y., & Yao, H. (2017). Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis. Experimental and Therapeutic Medicine, 14, 3229-3232. https://doi.org/10.3892/etm.2017.4848
MLA
Chen, Y., Wang, X., Fu, Q., Kang, Y., Yao, H."Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis". Experimental and Therapeutic Medicine 14.4 (2017): 3229-3232.
Chicago
Chen, Y., Wang, X., Fu, Q., Kang, Y., Yao, H."Phospholemman, a major regulator of skeletal muscle Na+/K+‑ATPase, is not mutated in probands with hypokalemic periodic paralysis". Experimental and Therapeutic Medicine 14, no. 4 (2017): 3229-3232. https://doi.org/10.3892/etm.2017.4848
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