Ankyrins in human health and disease – an update of recent experimental findings

Chagula, Damian B; Rechciński, Tomasz; Rudnicka, Karolina; Chmiela, Magdalena

doi:10.5114/aoms.2019.89836

Cited by 12 publications

(5 citation statements)

References 72 publications

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“…The present studies have shown that the inhibition of NOS1 decreased RYR2 activity because of reducing Ca 2+ sparks and shortened action potential causing arrhythmia susceptibility ( 9 , 26 ). In addition, ANK2 from the SR promotes the flow of calcium ions into the plasma membrane through the inositol triphosphate receptor and NCX ( 27 ). ATP2C2 encodes calcium-transporting ATPase, removing calcium from the cytosol into the Golgi body ( 28 ).…”

Section: Resultsmentioning

confidence: 99%

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing

Huang

Luo

Zheng

et al. 2022

Front. Cardiovasc. Med.

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BackgroundAtrioventricular nodal reentrant tachycardia (AVNRT) is a common arrhythmia. Growing evidence suggests that family aggregation and genetic factors are involved in AVNRT. However, in families with a history of AVNRT, disease-causing genes have not been reported.ObjectiveTo investigate the genetic contribution of familial AVNRT using a whole-exome sequencing (WES) approach.MethodsBlood samples were collected from 20 patients from nine families with a history of AVNRT and 100 control participants, and we systematically analyzed mutation profiles using WES. Gene-based burden analysis, integration of previous sporadic AVNRT data, pedigree-based co-segregation, protein-protein interaction network analysis, single-cell RNA sequencing, and confirmation of animal phenotype were performed.ResultsAmong 95 related reference genes, seven candidate pathogenic genes have been identified both in sporadic and familial AVNRT, including CASQ2, AGXT, ANK2, SYNE2, ZFHX3, GJD3, and SCN4A. Among the 37 reference genes from sporadic AVNRT, five candidate pathogenic genes were identified in patients with both familial and sporadic AVNRT: LAMC1, ryanodine receptor 2 (RYR2), COL4A3, NOS1, and ATP2C2. To identify the common pathogenic mechanisms in all AVNRT cases, five pathogenic genes were identified in patients with both familial and sporadic AVNRT: LAMC1, RYR2, COL4A3, NOS1, and ATP2C2. Considering the unique internal candidate pathogenic gene within pedigrees, three genes, TRDN, CASQ2, and WNK1, were likely to be the pathogenic genes in familial AVNRT. Notably, the core calcium-signaling pathway may be closely associated with the occurrence of AVNRT, including CASQ2, RYR2, TRDN, NOS1, ANK2, and ATP2C2.ConclusionOur pedigree-based studies demonstrate that RYR2 and related calcium signaling pathway play a critical role in the pathogenesis of familial AVNRT using the WES approach.

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Section: Resultsmentioning

confidence: 99%

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing

Huang

Luo

Zheng

et al. 2022

Front. Cardiovasc. Med.

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show abstract

“…9, 26 In addition, ANK2 from the SR promotes the flow of calcium ions into the plasma membrane through the inositol triphosphate receptor and NCX. 27 ATP2C2 encodes calcium-transporting ATPase, removing calcium from the cytosol into the Golgi body. 28 Therefore, the calcium-signaling pathway may be closely associated with the occurrence of AVNRT.…”

Section: Resultsmentioning

confidence: 99%

Integrative analyses identify potential key genes and calcium-signaling pathway in familial AVNRT using whole-exome sequencing

Huang

Luo

Zheng

et al. 2022

Preprint

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BackgroundAtrioventricular nodal reentrant tachycardia (AVNRT) is a common arrhythmia. Growing evidence suggests that family aggregation and genetic factors are involved in AVNRT. However, in families with a history of AVNRT, disease-causing genes have not been reported.ObjectiveTo investigate the genetic contribution of familial AVNRT using a WES approach.MethodsBlood samples were collected from 20 patients from nine families with a history of AVNRT and 100 control participants, and we systematically analyzed mutation profiles using whole-exome sequencing. Gene-based burden analysis, integration of previous sporadic AVNRT data, pedigree-based co-segregation, protein-protein interaction network analysis, single-cell RNA sequencing, and confirmation of animal phenotype were performed.ResultsAmong 95 reference genes, seven pathogenic genes have been identified both in sporadic and familial AVNRT, including CASQ2, AGXT, ANK2, SYNE2, ZFHX3, GJD3, and SCN4A. Among the 37 reference genes from sporadic AVNRT, five pathogenic genes were identified in patients with both familial and sporadic AVNRT: LAMC1, RYR2, COL4A3, NOS1, and ATP2C2. Considering the unique internal pathogenic gene within pedigrees, three genes, TRDN, CASQ2, and WNK1, were likely to be the pathogenic genes in familial AVNRT. Notably, the core calcium-signaling pathway may be closely associated with the occurrence of AVNRT, including CASQ2, RYR2, TRDN, NOS1, ANK2, and ATP2C2.ConclusionThese results revealed the underlying mechanism for familial AVNRT.

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“…Ankyrins are adaptor molecules found in eukaryotic cells. They serve as crucial scaffolding proteins involved in anchoring to the muscle membrane, contributing to muscle development, neurogenesis, and synapse formation 38 . Functional variants of ankyrin-B have been linked to certain human diseases, including T2D 39 .…”

Section: Prediabetes Versus Normoglycemic State-proteomic Pipelinementioning

confidence: 99%

Exploring protein relative relations in skeletal muscle proteomic analysis for insights into insulin resistance and type 2 diabetes

Czajkowska,

Czajkowski,

Szczerbinski

et al. 2024

Sci Rep

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The escalating prevalence of insulin resistance (IR) and type 2 diabetes mellitus (T2D) underscores the urgent need for improved early detection techniques and effective treatment strategies. In this context, our study presents a proteomic analysis of post-exercise skeletal muscle biopsies from individuals across a spectrum of glucose metabolism states: normal, prediabetes, and T2D. This enabled the identification of significant protein relationships indicative of each specific glycemic condition. Our investigation primarily leveraged the machine learning approach, employing the white-box algorithm relative evolutionary hierarchical analysis (REHA), to explore the impact of regulated, mixed mode exercise on skeletal muscle proteome in subjects with diverse glycemic status. This method aimed to advance the diagnosis of IR and T2D and elucidate the molecular pathways involved in its development and the response to exercise. Additionally, we used proteomics-specific statistical analysis to provide a comparative perspective, highlighting the nuanced differences identified by REHA. Validation of the REHA model with a comparable external dataset further demonstrated its efficacy in distinguishing between diverse proteomic profiles. Key metrics such as accuracy and the area under the ROC curve confirmed REHA’s capability to uncover novel molecular pathways and significant protein interactions, offering fresh insights into the effects of exercise on IR and T2D pathophysiology of skeletal muscle. The visualizations not only underscored significant proteins and their interactions but also showcased decision trees that effectively differentiate between various glycemic states, thereby enhancing our understanding of the biomolecular landscape of T2D.

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Ankyrins in human health and disease – an update of recent experimental findings

Cited by 12 publications

References 72 publications

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing

Integrative analyses identify potential key genes and calcium-signaling pathway in familial AVNRT using whole-exome sequencing

Exploring protein relative relations in skeletal muscle proteomic analysis for insights into insulin resistance and type 2 diabetes

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