FLNC

Last update 08 May 2025

Basic Info

Synonyms

ABP-280, ABP-280-like protein, ABP-L

+ [9]

Introduction

Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events (By similarity).

100 Clinical Results associated with FLNC

100 Translational Medicine associated with FLNC

0 Patents (Medical) associated with FLNC

516

Literatures (Medical) associated with FLNC

01 Aug 2025·Food Chemistry

Uncovering quality changes in oysters (Crassostrea hongkongensis) during frozen storage based on lipidomics and proteomics

Article

Author: Zhu, Beiwei ; Dong, Xiuping ; Guo, Xiaoming ; Hu, Yuanyuan ; Luo, Ying ; Wang, Zonghan ; Zhou, Dayong ; Quan, Zhengze

This study investigated quality changes in oysters during frozen storage through physicochemical analysis, quantitative lipidomics, and quantitative proteomics. Results showed that the quality of oysters progressively deteriorated with increasing freezing time and temperature, as evidenced by color darkening, texture softening, reduced water-holding capacity, and increased TVB-N levels. Simultaneously, protein oxidation and lipid oxidation were observed, resulting in increased carbonyl, disulfide bonds, dityrosine, TBARS, and Schiff base content, and decreased free sulfhydryl groups. Lipidomics analysis revealed oxidation and hydrolysis of polyunsaturated lipids in oysters during storage, with PC being preferentially oxidized. Proteomics analysis revealed extensive oxidation and degradation of structural proteins, particularly MHC and filamin-C. Correlation analysis further highlighted oxidative degradation of polyunsaturated lipids and structural proteins as major contributors to the quality decline of oysters during frozen storage. This study sheds light on the mechanisms of quality deterioration in frozen oysters and provides valuable guidance for enhancing their preservation quality.

01 May 2025·AJOG Global Reports

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy

Article

Author: Pandey, Shubhra ; Khandhedia, Parth

Familial hypertrophic cardiomyopathy is an autosomal dominant familial inherited heart disease caused by mutations in the sarcomere protein that affects nearly 1 in 500 people. Genetic testing is of immense importance for familial inherited diseases. This study aimed to determine a way to allow couples with either partner or both partners with familial disease to achieve a healthy biological child. Preimplantation genetic testing for monogenic disorders of the embryos is a new technique that identifies the causative mutation in the genome of family members. The embryo trophectoderm is biopsied at the blastocyst stage of development. Subsequently, embryos are made via in vitro fertilization, and 6 to 8 cells are biopsied from the trophectoderm of the day 5 blastocyst. A couple in their early 20s consulted the hospital for preconceptional counseling for a second child. Their first child was a girl who had a heterozygous variant of chr7:128844078C>T; (HET); c.3004C>T; p.Arg1002Trp on Exon 20 with a gene transcript of filamin C (+) ENST00000 325888.13. Preconceptional pretest genetic counseling of the couple regarding the genetic aspects of the severity of the mutation and its inheritance was conducted. A heterozygous missense variation was present in the asymptomatic father, whereas the mother was normal. Posttest genetic counseling was conducted using a multidisciplinary approach, and the parents were informed about the clinical implications and the possibility of risk of transmission. Preimplantation genetic testing for monogenic disorders was performed, and 6 of 10 embryos were abnormal. A frozen-thawed embryo transfer was performed that resulted in a singleton pregnancy and the term delivery of a healthy male child. Genetic testing of embryos assists clinicians in managing couples at risk of transmission of serious genetic disorders. For couples with familial disease in either partner, medically assisted reproduction with preimplantation genetic testing for monogenic disorders is a promising strategy to achieve a healthy biological child.

06 Apr 2025·Human Molecular Genetics

Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death

Article

Author: Klingel, Karin ; Schmidt, Andreas ; Fox, Henrik ; Gärtner, Anna ; Holtzhausen, Christian ; Gummert, Jan ; Milting, Hendrik ; Kirfel, Gregor ; Fürst, Dieter O ; Krüger, Marcus ; Schröder, Rolf ; van der Ven, Peter F M ; Tiesmeier, Jens ; Clemen, Christoph S ; Heil, Lorena

AbstractMutations in the human FLNC gene encoding filamin C (FLNc) cause a broad spectrum of sporadic and familial cardiomyopathies and myopathies. We report on the genetic, clinical, morphological and biochemical findings in a German family harboring an FLNC variant that leads to severe cardiac disease comprising sudden cardiac death and arrhythmogenic cardiomyopathy. Genetic analysis identified a novel heterozygous FLNC variant in exon 16 (NM_001458.4:c.2495_2498delAGTA, het; p.K832TfsX45) in i) the index patient suffering from dilated cardiomyopathy necessitating heart transplantation, ii) a son, who died from sudden cardiac death, iii) a second son, who survived an episode of sudden cardiac arrest and iv) a third son affected by isolated skeletal muscle myopathy. FLNc protein levels were markedly reduced in cardiac tissue obtained from the index patient, implying that the p.K832TfsX45 FLNc variant most probably caused nonsense-mediated decay of the corresponding mRNA. Morphological analysis of the diseased cardiac tissue revealed extensive fibrotic remodeling, and marked degenerative changes of the contractile apparatus of cardiomyocytes and severe structural alterations of intercalated discs. Connexin-43 signal intensity at intercalated discs was diminished and FLNc labelling of myofibrils was attenuated or even absent. Proteome analyses demonstrated complex alterations of extracellular matrix and intercalated disc proteins. Our findings demonstrate that this novel, truncating FLNC mutation likely leads to haploinsufficiency, thereby causing a deleterious sequence of degenerative changes of cardiac tissue with extensive fibrotic remodeling and intercalated disc pathology as the structural basis for FLNC-related cardiomyopathy with life-threatening cardiac arrhythmias.

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FLNC

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