PRKAG3 polymorphisms associated with sporadic Wolff–Parkinson–White syndrome among a Taiwanese population

Weng, Ken‐Pen; Yuh, Yeong‐Seng; Huang, Shih-Hui; Hsiao, Hsiang-Chiang; Wu, Huang-Wei; Chien, Jen-Hung; Chen, Bo-Hau; Huang, Shih‐Ming; Kuan, Yu‐Hsiang; Ger, Luo‐Ping

doi:10.1016/j.jcma.2016.08.008

Cited by 7 publications

(5 citation statements)

References 21 publications

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“…The implicated gene variants and their possible pathogenetic roles in the pathogenesis of accessory AV connections are as follows: NK2 homeobox 5 (NKX2-5) c.224T>A (C82S), c.839C>T (P280L), [19] c.73C>T (R25C). [20][21][22][23] NKX2-5 is known as a pivotal cardiac transcription factor gene, causing anatomic hypoplasia of the cardiac conduction system; lysosomal associated membrane protein 2 c.755T>G (I252S), c.586A>T (T196S), c.1117_1119delGAC (373delD); [19] the reason why the detected lysosomal associated membrane protein 2 variants might cause accessory AV connections is still not understood; an R225W mutation in protein kinase AMPactivated noncatalytic subunit gamma 3 (PRKAG3) results in glycogen accumulation in the AV annular region, [24] leading to the formation of AV bypass; and the microdeletion of the bone morphogenetic protein 2 region within 20p12.3 is involved in conduction abnormalities of the heart and contributes to both WPW syndrome and the features of Alagille syndrome. [25] As shown, there are only a few studies referring to the gene polymorphism associated with accessory AV connections and each SNP seems to explain a small number of WPW cases, suggesting that more polymorphisms need to be discovered.…”

Section: Discussionmentioning

confidence: 99%

Association of T-box gene polymorphisms with the risk of Wolff–Parkinson–White syndrome in a Han Chinese population

et al. 2022

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Abnormal development of the atrioventricular ring can lead to the formation of a bypass pathway and the occurrence of Wolff–Parkinson–White (WPW) syndrome. The genetic mechanism underlying the sporadic form of WPW syndrome remains unclear. Existing evidence suggests that both T-box transcription factor 3 ( TBX3 ) and T-box transcription factor 2 ( TBX2 ) genes participate in regulating annulus fibrosus formation and atrioventricular canal development. Thus, we aimed to examine whether single-nucleotide polymorphisms (SNPs) in the TBX3 and TBX2 genes confer susceptibility to WPW syndrome in a Han Chinese Population. We applied a SNaPshot SNP assay to analyze 5 selected tagSNPs of TBX3 and TBX2 in 230 patients with sporadic WPW syndrome and 231 sex- and age-matched controls. Haplotype analysis was performed using Haploview software. Allele C of TBX3 rs1061657 was associated with a higher risk of WPW syndrome (odds ratio [OR] = 1.41, 95% confidence interval [CI]: 1.08–1.83, P = .011) and left-sided accessory pathways (OR = 1.40, 95% CI: 1.07–1.84, P = .016). However, allele C of TBX3 rs8853 was likely to reduce these risks (OR = 0.71, 95% CI: 0.54–0.92, P = .011; OR = 0.70, 95% CI: 0.53–0.92, P = .011, respectively). The data revealed no association between TBX3 rs77412687, TBX3 rs2242442, or TBX2 rs75743672 and WPW syndrome. TBX3 rs1061657 and rs8853 are significantly associated with sporadic WPW syndrome among a Han Chinese population. To verify our results, larger sample sizes are required in future studies.

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Section: Discussionmentioning

confidence: 99%

Association of T-box gene polymorphisms with the risk of Wolff–Parkinson–White syndrome in a Han Chinese population

et al. 2022

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“…It was found that the SCN5A gene, which was associated with Brugada syndrome, showed a downregulated expression in the myocardium of patients with SBMA [ 7 ], indicating that the gene expression abnormalities result from the nuclear accumulation of pathogenic AR may be responsible for the myocardial dysfunction in SBMA. It has been previously found that WPW syndrome was associated with mutation in AMP-activated protein kinase (AMPK) subunit genes [ 16 , 17 ], and the expression of these genes may also be affected by the extensive nuclear accumulation of pathogenic AR. We speculate that the WPW pattern ECG was caused by the same mechanism as that in SBMA patients with Brugada syndrome.…”

Section: Discussionmentioning

confidence: 99%

Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report

Huang

Zhou

et al. 2022

BMC Neurol

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Background Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive hereditary neuromuscular disorder caused by the expanded trinucleotide repeat in the androgen receptors gene. The major clinical manifestations of SBMA consist of weakness in the bulbar and limb muscles, fasciculations, tremors, cramps, sensory impairment, and gynecomastia. However, atypical SBMA cases may lead to misdiagnosis. Muscular fatigue and decremental responses to repetitive nerve stimulation (RNS), despite being observed in some SBMA patients, are usually occurred in MG patients, and patient with the symptom of mastication fatigue was rarely reported. In addition, cardiological investigations have been performed in SBMA patients and several ECG alterations were identified. Here we report an SBMA patient presenting with a rare onset symptom of mastication fatigue, who has been detected with a positive titin antibody in the serum and showed a WPW pattern electrocardiogram. Case presentation The patient showed mildly progressive fatigue in the muscles of mastication over 3 years. Neurological examination showed facial muscle weakness and a wasting tongue with fasciculations, but the weakness, wasting, or fasciculations were not obvious in the limbs. 3-Hz RNS showed a decremental response in bilateral orbicularis oculi. The test of titin antibody was positive in the serum, and the electrocardiogram showed a WPW pattern ECG. Genetic analysis revealed an increased number (39 repeats) of tandem CAG repeats in the AR gene, which confirmed the diagnosis of SBMA. The fatigue symptom was significantly improved after oral pyridostigmine bromide treatment. Conclusion This case calls for more attention to muscular fatigue as the onset symptoms of Kennedy’s disease. ECG screening is of importance in SBMA patients and further studies are needed to investigate the titin antibody in SBMA patients as well as other neurogenic disorders.

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“…Это исследование показало, что ген PRKAG3 может быть связан со спорадическим WPW среди населения Тайваня. Необходимы дальнейшие исследования для выяснения роли мутаций в гене PRKAG3 при спорадическом WPW [15].…”

Section: обзор ассоциации полиморфизмов геновunclassified

PRKAG2 and PRKAG3 genes in patients with Wolff-Parkinson-White syndrome: a literature review

Tolstokorova,

Nikulina,

Chernova

et al. 2023

Russ J Cardiol

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Wolff-Parkinson-White syndrome (WPW) is a syndrome with early ventricular excitation due to the abnormal electrical conduction through an accessory atrioventricular pathway, and is usually accompanied by supraventricular tachycardia. There is a proven genetic component in the development of this syndrome. This review presents current literature data on the association of nucleotide sequence variants of the PRKAG2 and PRKAG3 genes in patients with WPW.

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PRKAG3 polymorphisms associated with sporadic Wolff–Parkinson–White syndrome among a Taiwanese population

Abstract: This study shows that PRKAG3-230 may be associated with sporadic WPW syndrome among a Taiwanese population. Further studies are warranted to elucidate the role of mutations in AMPK subunit genes other than PRKAG3-230 in sporadic WPW syndrome.

Cited by 7 publications

References 21 publications

Association of T-box gene polymorphisms with the risk of Wolff–Parkinson–White syndrome in a Han Chinese population

Association of T-box gene polymorphisms with the risk of Wolff–Parkinson–White syndrome in a Han Chinese population

Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report

PRKAG2 and PRKAG3 genes in patients with Wolff-Parkinson-White syndrome: a literature review

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