Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

Carboni, Nicola; Mateddu, Anna; Marrosu, Giovanni; Cocco, Eleonora; Marrosu, Maria Giovanna

doi:10.1002/mus.23827

Cited by 24 publications

(17 citation statements)

References 105 publications

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“…Therefore, the impact of nuclear lamins on nucleus rigidity and invasion is dependent upon cancer cell types and local environment. Since lamins are present in muscle cells [73], it is likely that nuclear lamins affect nucleus rigidity and modulate smooth muscle cell migration in tissues, a three-dimensional environment.…”

Section: Role Of Intermediate Filaments In Cell Migrationmentioning

confidence: 99%

The roles and regulation of the actin cytoskeleton, intermediate filaments and microtubules in smooth muscle cell migration

2017

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Smooth muscle cell migration has been implicated in the development of respiratory and cardiovascular systems; and airway/vascular remodeling. Cell migration is a polarized cellular process involving a protrusive cell front and a retracting trailing rear. There are three cytoskeletal systems in mammalian cells: the actin cytoskeleton, the intermediate filament network, and microtubules; all of which regulate all or part of the migrated process. The dynamic actin cytoskeleton spatially and temporally regulates protrusion, adhesions, contraction, and retraction from the cell front to the rear. c-Abl tyrosine kinase plays a critical role in regulating actin dynamics and migration of airway smooth muscle cells and nonmuscle cells. Recent studies suggest that intermediate filaments undergo reorganization during migration, which coordinates focal adhesion dynamics, cell contraction, and nucleus rigidity. In particular, vimentin intermediate filaments undergo phosphorylation and reorientation in smooth muscle cells, which may regulate cell contraction and focal adhesion assembly/disassembly. Motile cells are characterized by a front-rear polarization of the microtubule framework, which regulates all essential processes leading to cell migration through its role in cell mechanics, intracellular trafficking, and signaling. This review recapitulates our current knowledge how the three cytoskeletal systems spatially and temporally modulate the migratory properties of cells. We also summarize the potential role of migration-associated biomolecules in lung and vascular diseases.

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Section: Role Of Intermediate Filaments In Cell Migrationmentioning

confidence: 99%

The roles and regulation of the actin cytoskeleton, intermediate filaments and microtubules in smooth muscle cell migration

2017

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“…These lamins belong to the family of type V intermediate filaments. The protein consists of an N-terminal head domain, a central α-helical coiled coil rod domain, and a C-terminal tail domain (Figure 3b) [9]. Lamins are expressed exclusively in the nucleus of differentiated cells, and are the major constituents of the nuclear lamina and distributed in the nucleoplasm forming a part of the skeleton-type structure.…”

Section: Case Presentationmentioning

confidence: 99%

A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case

et al. 2015

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BackgroundMutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established.Case presentationWe report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction. He showed gait disturbance since childhood, and his family showed similar symptoms. Neurological and electrophysiological findings suggested spinal muscular atrophy type 3. Gene analysis of lamin A/C gene showed a novel nonsense mutation p.Q353X (c.1057C > T). Further investigations revealed that he and his family members had cardiac diseases including atrioventricular block.ConclusionsWe report the first Japanese case of spinal muscular atrophy phenotype associated with lamin A/C mutation. When a patient presents a spinal muscular atrophy phenotype and unexplained cardiac disease, especially when the family history is positive, gene analysis of lamin A/C gene should be considered.

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“…In addition, the knockout or mutation of the IFs lamin A/C (Kubben et al, 2011;Sullivan et al, 1999), synemin α and β (García-Pelagio et al, 2015;Li et al, 2014) and keratin 19 (Stone et al, 2007) hamper proper myoblast function. A multitude of myopathic desmin and lamin A/C mutations have been identified in human patients, affecting both skeletal and cardiac muscle (Carboni et al, 2013;Goldfarb and Dalakas, 2009;Worman et al, 2009). Different types of muscle injuries are common in all age groups, including myopathies and externally induced injures.…”

Section: Introductionmentioning

confidence: 99%

Nestin contributes to skeletal muscle homeostasis and regeneration

Lindqvist

Torvaldson

Gullmets

et al. 2017

Journal of Cell Science

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Nestin, a member of the cytoskeletal family of intermediate filaments, regulates the onset of myogenic differentiation through bidirectional signaling with the kinase Cdk5. Here, we show that these effects are also reflected at the organism level, as there is a loss of skeletal muscle mass in nestin (NesKO) mice, reflected as reduced lean (muscle) mass in the mice. Further examination of muscles in male mice revealed that these effects stemmed from nestin-deficient muscles being more prone to spontaneous regeneration. When the regeneration capacity of the compromised NesKO muscle was tested by muscle injury experiments, a significant healing delay was observed. NesKO satellite cells showed delayed proliferation kinetics in conjunction with an elevation in p35 (encoded by ) levels and Cdk5 activity. These results reveal that nestin deficiency generates a spontaneous regenerative phenotype in skeletal muscle that relates to a disturbed proliferation cycle that is associated with uncontrolled Cdk5 activity.

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Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

Cited by 24 publications

References 105 publications

The roles and regulation of the actin cytoskeleton, intermediate filaments and microtubules in smooth muscle cell migration

The roles and regulation of the actin cytoskeleton, intermediate filaments and microtubules in smooth muscle cell migration

A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case

Nestin contributes to skeletal muscle homeostasis and regeneration

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