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Filamin C in cardiomyopathy: from physiological roles to DNA variants

Shen Song1, Anteng Shi1, Hong Lian1

  • 1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.

Heart Failure Reviews
|September 18, 2021
PubMed

Insights

Mutations in the Filamin C (FLNC) gene are linked to various cardiomyopathies. Understanding FLNC

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathy is a leading cause of death, with familial cases often linked to genetic mutations.
  • Filamin C (FLNC) is crucial for sarcomere stability and its mutations are implicated in myofibrillar myopathy and cardiomyopathy.
  • Recent findings highlight FLNC mutations as critical in cardiomyopathy pathogenesis.

Purpose of the Study:

  • To review the physiological roles of Filamin C in cardiomyocytes.
  • To summarize genetic evidence linking FLNC mutations to cardiomyopathies.
  • To elucidate pathomechanisms in FLNC-related cardiomyopathy.

Main Methods:

  • Literature review of studies on FLNC gene and cardiomyopathy.
  • Analysis of FLNC protein variants (truncated vs. non-truncated) in different cardiomyopathy types.
  • Summary of described pathomechanisms including protein aggregation and haploinsufficiency.

Main Results:

  • Truncated FLNC is associated with dilated and arrhythmogenic right ventricular cardiomyopathy.
  • Non-truncated FLNC is linked to hypertrophic and restrictive cardiomyopathy.
  • Two key pathomechanisms identified: protein aggregation and haploinsufficiency.

Conclusions:

  • FLNC mutations are a significant genetic cause of various cardiomyopathies.
  • Different FLNC mutation types correlate with specific cardiomyopathy subtypes.
  • Understanding FLNC biology is vital for developing targeted therapies for FLNC-related cardiomyopathies.

Keywords:
CardiomyocytesCardiomyopathyFLNCFilamins

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