RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort

Ainur Akilzhanova, Christian Guelly, Omirbek Nuralinov, Zhannur Nurkina, Dinara Nazhat, Shalkhar Smagulov, Azat Tursunbekov, Anar Alzhanova, Gulzhaina Rashbayeva, Ayan Abdrakhmanov, Sholpan Dosmagambet, Slave Trajanoski, Zhaxybay Zhumadilov, Almaz Sharman, Mahabbat Bekbosynova

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.

Original languageEnglish
Article numbere101059
JournalPLoS One
Volume9
Issue number6
DOIs
Publication statusPublished - Jun 30 2014

Fingerprint

ryanodine receptors
Ryanodine Receptor Calcium Release Channel
missense mutation
Missense Mutation
Ventricular Tachycardia
cohort studies
Cohort Studies
Channelopathies
Arrhythmogenic Right Ventricular Dysplasia
Calcium
calcium
penetrance
sarcoplasmic reticulum
Penetrance
Sudden Cardiac Death
Sarcoplasmic Reticulum
heart failure
Cardiac Myocytes
cytosol
Cytosol

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Akilzhanova, A., Guelly, C., Nuralinov, O., Nurkina, Z., Nazhat, D., Smagulov, S., ... Bekbosynova, M. (2014). RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort. PLoS One, 9(6), [e101059]. https://doi.org/10.1371/journal.pone.0101059

RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort. / Akilzhanova, Ainur; Guelly, Christian; Nuralinov, Omirbek; Nurkina, Zhannur; Nazhat, Dinara; Smagulov, Shalkhar; Tursunbekov, Azat; Alzhanova, Anar; Rashbayeva, Gulzhaina; Abdrakhmanov, Ayan; Dosmagambet, Sholpan; Trajanoski, Slave; Zhumadilov, Zhaxybay; Sharman, Almaz; Bekbosynova, Mahabbat.

In: PLoS One, Vol. 9, No. 6, e101059, 30.06.2014.

Research output: Contribution to journalArticle

Akilzhanova, A, Guelly, C, Nuralinov, O, Nurkina, Z, Nazhat, D, Smagulov, S, Tursunbekov, A, Alzhanova, A, Rashbayeva, G, Abdrakhmanov, A, Dosmagambet, S, Trajanoski, S, Zhumadilov, Z, Sharman, A & Bekbosynova, M 2014, 'RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort', PLoS One, vol. 9, no. 6, e101059. https://doi.org/10.1371/journal.pone.0101059
Akilzhanova, Ainur ; Guelly, Christian ; Nuralinov, Omirbek ; Nurkina, Zhannur ; Nazhat, Dinara ; Smagulov, Shalkhar ; Tursunbekov, Azat ; Alzhanova, Anar ; Rashbayeva, Gulzhaina ; Abdrakhmanov, Ayan ; Dosmagambet, Sholpan ; Trajanoski, Slave ; Zhumadilov, Zhaxybay ; Sharman, Almaz ; Bekbosynova, Mahabbat. / RYR2 sequencing reveals novel missense mutations in a kazakh idiopathic ventricular tachycardia study cohort. In: PLoS One. 2014 ; Vol. 9, No. 6.
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