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Heart Failure Reviews

Erschienen in:

17.09.2021 | Cardiomyopathy

Filamin C in cardiomyopathy: from physiological roles to DNA variants

verfasst von: Shen Song, Anteng Shi, Hong Lian, Shengshou Hu, Yu Nie

Erschienen in: Heart Failure Reviews | Ausgabe 4/2022

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Abstract

Cardiomyopathy affects approximately 1 in 500 adults and is the leading cause of death. Familial cases are common, and mutations in many genes are involved in cardiomyopathy, especially those in genes encoding cytoskeletal, sarcomere, and nuclear envelope proteins. Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance. FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role in the pathogenesis of cardiomyopathy. In this review, we summarized the physiological roles of filamin C in cardiomyocytes and the genetic evidence for links between FLNC mutations and cardiomyopathies. Truncated FLNC is enriched in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Non-truncated FLNC is enriched in hypertrophic cardiomyopathy and restrictive cardiomyopathy. Two major pathomechanisms in FLNC-related cardiomyopathy have been described: protein aggregation resulting from non-truncating mutations and haploinsufficiency triggered by filamin C truncation. Therefore, it is important to understand the cellular biology and molecular regulation of FLNC to design new therapies to treat patients with FLNC-related cardiomyopathy.

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Titel: Filamin C in cardiomyopathy: from physiological roles to DNA variants
verfasst von: Shen Song
Anteng Shi
Hong Lian
Shengshou Hu
Yu Nie
Publikationsdatum: 17.09.2021
Verlag: Springer US
Schlagwort: Cardiomyopathy
Erschienen in: Heart Failure Reviews / Ausgabe 4/2022
Print ISSN: 1382-4147
Elektronische ISSN: 1573-7322
DOI: https://doi.org/10.1007/s10741-021-10172-z

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Nach Herzinfarkt mit Typ-1-Diabetes schlechtere Karten als mit Typ 2?

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