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Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.

Author: AltamuraConcetta, BernasconiPia, CarratùMaria Rosaria, ConteDiana, DesaphyJean-François, FarinatoAlessandro, ImbriciPaola, Lo MonacoMauro, MaggiLorenzo, MantegazzaRenato, PasqualiLivia, SicilianoGabriele, SternbergDamien, VialChristophe

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Overview

This study investigated the pharmacological characteristics of myotonic Nav1.4 mutations clustered near the fast inactivation gate of the sodium channel. While mexiletine is the first-line treatment, some mutations reduce its effectiveness. The study found that class Ic antiarrhythmics, such as flecainide and propafenone, may offer a valuable alternative for patients with these specific mutations.
Paper Details　
Original Abstract of the Article :
Sodium channel myotonia and paramyotonia congenita are caused by gain-of-function mutations in the skeletal muscle voltage-gated sodium channel hNav1.4. The first-line drug is the sodium channel blocker mexiletine; however, some patients show side effects or limited responses. We previously showed t...See full text at original site
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引用元：
https://doi.org/10.1016/j.phrs.2019.01.004

データ提供：米国国立医学図書館（NLM）

Navigating the Complexities of Myotonic Sodium Channels

The world of genetics is a labyrinthine maze, and understanding the nuances of genetic disorders is essential for effective treatment. This study delves into the pharmacogenetics of myotonic hNav1.4 sodium channel variants, focusing on mutations near the fast inactivation gate. The researchers investigated the effects of these mutations on the efficacy of sodium channel blockers, aiming to personalize treatment strategies for patients with myotonic disorders.

Unveiling the Impact of Mutations

The study found that mutations near the fast inactivation gate impair the kinetics and voltage dependence of fast inactivation. This can lead to a range of clinical manifestations, including myotonia. The researchers also discovered that some of these mutations reduce the potency of mexiletine, a commonly used sodium channel blocker, highlighting the need for alternative treatment options.

Tailoring Treatment for a Personalized Approach

The study's findings pave the way for a more personalized approach to managing myotonic disorders. By identifying specific mutations and their impact on drug efficacy, clinicians can select the most appropriate treatment strategy for each patient, optimizing therapeutic outcomes and minimizing side effects. This underscores the growing importance of pharmacogenetics in the personalized medicine era.

Dr.Camel's Conclusion

This research highlights the crucial role of pharmacogenetics in understanding and managing myotonic disorders. By deciphering the complex interactions between mutations and drug efficacy, healthcare providers can navigate the labyrinth of personalized medicine, offering patients more effective and targeted treatments.
Date :
  1. Date Completed 2019-09-03
  2. Date Revised 2019-09-03
Further Info :

Pubmed ID

30611854

DOI: Digital Object Identifier

10.1016/j.phrs.2019.01.004

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Languages

English

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