Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Xue GongPeiyu YuTing WuYunru HeKaiyu ZhouYimin HuaSha LinTao WangHe HuangYifei LiPublished in: Molecular genetics & genomic medicine (2022)
In summary, this is the first case report to describe a DCM phenotype with early onset in patients possessing a PRKAG2 c.425C > T (p.T142I) pathogenic variant. Our results aid in understanding the molecular function of non-CBS variants in terms of the disordered sequence of transcripts. Moreover, we used scRNA-seq to show that electrically conductive cells express a higher level of PRKAG2 than do cardiomyocytes. Therefore, variants in PRKAG2 are expected to also alter the biological function of the conduction system.
Keyphrases
- early onset
- copy number
- case report
- end stage renal disease
- late onset
- chronic kidney disease
- newly diagnosed
- induced apoptosis
- ejection fraction
- heart failure
- genome wide
- single cell
- cell cycle arrest
- cell death
- cell proliferation
- dna methylation
- patient reported outcomes
- gold nanoparticles
- endoplasmic reticulum stress
- patient reported