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Last update 08 May 2025

TMEM43

Last update 08 May 2025

Basic Info

Synonyms

ARVD5, DKFZp586G1919, LUMA

+ [4]

Introduction

May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020).

Drugs associated with TMEM43

WO2023178338

Patent Mining

Target

TMEM43

Mechanism-

Active Org.

University of Florida

Originator Org.

University of Florida

Active Indication

Heart Diseases

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with TMEM43

100 Translational Medicine associated with TMEM43

0 Patents (Medical) associated with TMEM43

177

Literatures (Medical) associated with TMEM43

11 Apr 2025·Circulation Research

Overexpression of Wild-Type TMEM43 Improves Cardiac Function in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5

Article

Author: García-Pavía, Pablo ; Ochoa, Juan Pablo ; Lalaguna, Laura ; Villalba-Orero, María ; López-Olañeta, Marina ; Gómez-Gaviro, María Victoria ; Muñoz-Cánoves, Pura ; Jiménez-Riobóo, Rafael J. ; Byrne, Barry J. ; Lara-Pezzi, Enrique ; Arévalo-Núñez de Arenas, María ; Isern, Joan

BACKGROUND:Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is the most aggressive type of ARVC, caused by a fully penetrant missense mutation (p.S358L) in TMEM43 (transmembrane protein 43). Pathologically, the disease is characterized by dilation of the cardiac chambers and fibrofatty replacement of the myocardium, which results in heart failure and sudden cardiac death. Current therapeutic options are limited, and no specific therapies targeting the primary cause of the disease have been proposed.METHODS:We investigated whether overexpression of wild-type (WT) TMEM43 could overcome the detrimental effects of the mutant form. We used transgenic mouse models overexpressing either WT or mutant (S358L) TMEM43 to generate a double transgenic mouse line overexpressing both forms of the protein. In addition, we explored if systemic delivery of a codon-optimized self-complementary adeno-associated virus bearing WT-TMEM43 could improve disease progression assessed by ECG and echocardiography.RESULTS:Double transgenic mice overexpressing both WT and mutant TMEM43 forms showed delayed ARVC5 onset, improved cardiac contraction, and reduced ECG abnormalities compared with mice expressing S358L-TMEM43. In addition, cardiomyocyte death and myocardial fibrosis were reduced, with an overall increase in survival. Finally, we demonstrated that a single systemic administration of an adeno-associated virus carrying codon-optimized WT-TMEM43 prevents ventricular dysfunction and ECG abnormalities induced by S358L-TMEM43.CONCLUSIONS:Overexpression of WT-TMEM43 improves the pathological phenotype in a mouse model of ARVC5. Adeno-associated virus-mediated delivery of WT-TMEM43 offers a promising and specific therapy for patients suffering from this highly lethal disease.

01 Apr 2025·American Journal of Physiology-Cell Physiology

GSK3 inhibition ameliorates the abnormal contractility of Newfoundland ACM patient iPSC-cardiomyocytes

Article

Author: Noort, Rebecca J ; Hodgkinson, Kathleen A ; Salman, Wesam ; Fuchs, Camila ; Pace, David ; Esseltine, Jessica L ; Braun, Ursula

This is the first characterization of induced pluripotent stem cell-cardiomyocytes (iPSC-CMs) from Newfoundland patients with ACM. We find that ACM iPSC-CMs exhibit extreme proarrhythmic tendencies that can be normalized with GSK3 inhibition. Importantly, GSK3 inhibition is accompanied by a significant increase in key proteins, such as β-catenin and Lamin A/C, pointing toward a possible mechanism both for disease pathogenesis and therapy via GSK3 inhibitors.

01 Mar 2025·Heart Rhythm

Features of the electrocardiogram in TMEM43 p.S358L arrhythmogenic cardiomyopathy

Article

Author: Gill, Harinder Pal ; Young, Terry-Lynn ; Short, Ian ; Vasanthan, Kieran ; Compton, Chris ; Duffett, Stephen A ; Connors, Sean P ; Hodgkinson, Kathleen A

BACKGROUNDThe electrocardiogram (ECG) is important in the diagnostic evaluation of arrhythmogenic cardiomyopathy (ACM).OBJECTIVEThe purpose of this study was to identify ECG features associated with TMEM43 p.S358L ACM during long-term assessment.METHODSA total of 634 ECGs were collected from a retrospective cohort of 68 patients with TMEM43 p.S358L ACM. Abnormalities in repolarization, depolarization, conduction intervals, QRS voltage, and rhythm were analyzed.RESULTSSixty-eight patients (32 male, 36 female) with ≥5 ECGs (median, 9; range, 5-17) during 20.5 ± 8.0 years were included. During follow-up, 56 of 68 (82.4%) had an abnormality. Task Force criteria repolarization abnormalities were rare. Terminal activation duration ≥55 ms was common (20/32 male patients [62.5%]; 13/36 female patients [36.1%]). An epsilon wave was demonstrated in 2 female patients. Significant prolongation in the QRS duration occurred for male patients (97.3 ± 11.6 ms to 137.6 ± 24.8 ms; P < .001) and female patients (90.4 ± 12.1 ms to 117.4 ± 24.0 ms; P < .001). The most common finding was R wave <3 mm in V₃ (poor R-wave progression). Loss of the R wave in V₃ <3 mm followed by development of an intraventricular conduction delay or complete left bundle branch block was seen in most patients (42/68 [61.8%]), occurring earlier in male than in female patients (P < .02).CONCLUSIONRepolarization Task Force criteria and epsilon waves are rare in TMEM43 p.S358L ACM. The ECG in TMEM43 p.S358L ACM is characterized by loss of the R wave in V₃ to <3 mm and QRS prolongation with development of an intraventricular conduction delay or left bundle branch block.

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TMEM43

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