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Dilated Cardiomyopathy
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Marco Merlo, Alessia Paldino, Giulia De Angelis, Gianfranco Sinagra
Filamin C (FLNC) has recently been included in genetic screening for cardiomyopathy. FLNC encodes filamin C, a large, intermediate filament involved in sarcomeric and Z-disk stability.25 Truncated variants in FLNC account for about 4% of DCM cases and 3% of arrhythmogenic DCM cases.26,27 Indeed, FLNC truncating mutations seem to be a cause of an overlapping phenotype of dilated and left dominant arrhythmogenic cardiomyopathy, characterized by increased deposition of fibrotic tissue between cardiomyocytes, represented by subepicardial-transmural fibrosis in inferolateral LV wall, and complicated by malignant ventricular arrhythmias and SCD.27 Recently, FLNC variants have been added to the indications for primary ICD implantation, next to LMNA and phospholamban (PLN) variants.28 Moreover, almost 5% of carriers for these FLNC variants have a right ventricular involvement or hypertrophic/restrictive phenotype.
Valve Disease
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Transmission is usually autosomal dominant, with incomplete penetrance and variable expression. Several loci have been identified including on the 16p11–13 11p15.4 and 13q31–32 chromosomes. There are also genes responsible for myxoid degeneration linked to the X chromosome. This genes codes for filamin A, which is a cytoskeleton protein. Barlow's disease can also occur in connective tissue disorders such as Marfan syndrome, Loeys–Dietz syndrome, Ehlers–Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and aneurysms-osteoarthritis syndrome.3
Muscle and Nerve Histology
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
The main functional units of each muscle fiber are myofibrils. Each myofibril is composed of bundles of myofilaments that are aligned precisely to form sarcomere in longitudinal section. Each sarcomere extends between two Z-lines and is composed of two bands; A-band dark and I-band light (Figure 1.4). These bands are associated with myofilaments. The myofilaments are subdivided into:Thin filaments (7 nm in diameter) consist of a protein called F-actin, which originates at the Z-line at the level of the I-band. Actin is attached to other proteins such as myotilin, filamin, and tropomyosin.Thick filaments (15 nm in diameter) consist of a protein called myosin, which originates at the H-desk at the level of the A-band. The A-band is bisected by the M-line.
What can we learn from senescent platelets, their transcriptomes and proteomes?
Published in Platelets, 2023
Harriet E. Allan, Ami Vadgama, Paul C. Armstrong, Timothy D. Warner
Amongst the transcripts detectable at higher levels in newly formed platelets are surface receptors important for hemostatic responses including, glycoproteins (GP)V and VI, integrin alpha IIb (Itga2b) and integrin beta-3 (Itgb3), the thrombin receptor PAR-4, as well as the transcripts involved in calcium homeostasis, including stromal interaction molecule 1 (STIM1) and calcium release-activated calcium modulator 2 & 3 (Orai2, Orai3). Furthermore, higher levels of cytoskeletal transcripts, such as filamin A and talin 1 were detectable in newly formed platelets.3,4 On the other hand, these studies highlight higher levels of transcripts for complement C5 and interleukin 7 in the aged platelets. The large list of transcripts which were higher in aged platelets are involved in numerous processes including RNA binding and export, ribosome biogenesis, cell division and apoptotic regulation. In addition, Hille et al. demonstrated that aged platelets had higher levels of transcripts associated with other circulatory cells including hemoglobin (HBA1, HBA2, HBB), indicative of the platelet’s ability to endocytose molecules from the circulation.3
Chronic interstitial lung diseases in children: diagnosis approaches
Published in Expert Review of Respiratory Medicine, 2018
Nadia Nathan, Laura Berdah, Keren Borensztajn, Annick Clement
Other alveolar growth disorders may be linked to Filamin A defects. Filamin A is a ubiquitous cytoskeletal protein interacting with actin. Mutations in FLNA have been associated with dominant syndromic ILD. FLNA is located on the X chromosome and female have been more described than male [67]. Chest imaging show marked emphysema of the lungs, lobular septal thickening and diffuse patchy atelectasis [68]. In addition to lung manifestations, periventricular nodular heterotopias, dental and dermal anomalies, heart diseases and impaired psychomotor development and cognition are reported.
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
9) Filamin A associated diseases–Mutation of the FLNA gene is responsible for some rare diseases such as periventricular nodular heterotopia (PVNH) and otopalatodigital syndrome (OPD), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked cardiac valvular dystrophy (XCVD). These diseases reportedly result from missense mutations in filamin A [261–265]. Filamin A is also localized in the nucleolus, where it interacts with the complex of Pol I (RRN3 and RPA40). In the absence of filamin A, Pol I was shown to suppress rRNA gene transcription*** [57,58,190,266–276]