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Jervell and Lange-Nielsen Syndrome Related Clinical Genetics and Experimental Models

SSRN, ISSN: 1556-5068
2024
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Article Description

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive (AR) disorder characterised by electrocardiographic QT prolongation, a pro-arrhythmic phenotype and sensorineural deafness. JLNS can reflect homozygous variants in the underlying KCNQ1/KCNE1, compound heterozygous variants in KCNQ1 or KCNE1, or combined heterozygous variants in KCNQ1 and KCNE1. KCNQ1 is the pore-forming subunit of the channel mediating slow delayed rectifier potassium currents, Iks; KCNE1 is an associated single transmembrane spanning β-subunit modulating KCNQ1 functional properties and cellular localisation. Experimental studies of isolated perfused mouse hearts at the cellular cardiomyocyte level and at the organ level in the genetic platforms of these conditions successfully recapitulated the clinical arrhythmic phenotypes and partially clarified their underlying mechanisms. Additionally, the utilization of iPSC cell platforms hold promise for investigating molecular mechanisms underlying both cardiac arrhythmic and sensorineural deafness phenotypes in patient-specific genetic backgrounds. This review summarises JLNS-related clinical genetics, physiological functions of KCNQ1 and KCNE1, and experimental models for its investigation.

Bibliographic Details

Yafei Zhou; Ying Yang; Yanmin Zhang; Christopher L.H. Huang

Elsevier BV

Multidisciplinary; Jervell and Lange-Nielsen syndrome; Long QT syndrome; deafness; KCNQ1; KCNE1

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