A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia

Eur Heart J. 2017 Jan 21;38(4):280-288. doi: 10.1093/eurheartj/ehv582.

Authors

Mirko Baruscotti¹, Annalisa Bucchi¹, Raffaella Milanesi¹, Manuel Paina¹, Andrea Barbuti¹, Tomaso Gnecchi-Ruscone², Elisabetta Bianco³, Laura Vitali-Serdoz⁴, Riccardo Cappato, Dario DiFrancesco¹

Affiliations

¹ Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
² Department of Cardiology, San Leopoldo Mandic Hospital, Merate, Italy.
³ Cardiovascular Department, 'Ospedali Riuniti di Trieste', University Hospital, Trieste, Italy.
⁴ II Medical Department, Cardiology, Klinikum Coburg, Coburg, Germany.

PMID: 28182231
DOI: 10.1093/eurheartj/ehv582

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cyclic AMP / physiology
Female
Gain of Function Mutation / genetics*
HEK293 Cells
Humans
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / chemistry
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / genetics*
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / physiology
Male
Muscle Proteins / genetics*
Mutant Proteins / metabolism
Myocytes, Cardiac / metabolism
Myocytes, Cardiac / physiology
Pedigree
Potassium Channels / genetics*
Recurrence
Syncope / genetics
Tachycardia, Sinus / genetics*

Substances

HCN4 protein, human
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
Muscle Proteins
Mutant Proteins
Potassium Channels
Cyclic AMP