Laminopathies

Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.

Also Known As:

Networked: 484 relevant articles (5 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Progeria (Hutchinson Gilford Syndrome)
2.	Laminopathies
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Lipodystrophy
5.	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)

Experts

1.	Lattanzi, Giovanna: 27 articles (02/2022 - 01/2005)
2.	Bonne, Gisèle: 23 articles (10/2021 - 01/2005)
3.	Worman, Howard J: 19 articles (01/2022 - 11/2004)
4.	Capanni, Cristina: 15 articles (01/2020 - 05/2005)
5.	De Sandre-Giovannoli, Annachiara: 14 articles (11/2020 - 10/2004)
6.	Maraldi, Nadir M: 14 articles (02/2018 - 01/2005)
7.	Stewart, Colin L: 14 articles (11/2017 - 08/2002)
8.	Mattioli, Elisabetta: 13 articles (01/2020 - 05/2005)
9.	Vigouroux, Corinne: 12 articles (01/2020 - 06/2005)
10.	Zhou, Zhongjun: 11 articles (01/2022 - 05/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Laminopathies:

1.	Proteins (Proteins, Gene)FDA Link 11/01/2023 - "Interestingly, hundreds of genetic mutations in the lamina proteins have been causally linked with a broad range of human pathologies, termed laminopathies. " 01/01/2023 - "Cardiac laminopathy-associated mutations involve genes coding for structural proteins with functions related to heart development and physiology. " 01/01/2022 - "Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. " 12/01/2021 - "Connections between NL proteins and centrosome function have implications for mechanisms associated with NL dysfunction in other stem cell populations, including NL-associated diseases, such as laminopathies." 07/21/2021 - "This method could thus be extended to conduct microrheological measurements on any intermediate filament protein thus bearing significant implications in laminopathies and other diseases associated with intermediate filaments."
2.	LaminsIBA 10/26/2009 - "These studies provide new insights on the role of lamins in nuclear biology and support Drosophila as a model for studies of human laminopathies involving muscle dysfunction." 10/01/2023 - "Finally, we discuss recent investigations into the influence of laminopathy-linked mutations on the assembly, folding, and stability of the nuclear lamins." 01/01/2023 - "elegans avatars for striated muscle laminopathies and identified LMNA variants that offer insight into lamin mechanisms during normal development." 01/01/2023 - "Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects. " 01/01/2023 - "Mutations in LMNA, the gene encoding A-type lamins, cause laminopathies-diseases of striated muscle and other tissues. "
3.	OligonucleotidesIBA 12/01/2006 - "Recent studies have begun the difficult task of correlating the genotypes of laminopathies with their phenotypes, and potential therapeutic strategies using existing drugs, modified oligonucleotides and RNAi are showing real promise for the treatment of these diseases."
4.	MicroRNAs (MicroRNA)IBA 01/01/2018 - "To date, few miRNAs have been reported to exert protective effects in laminopathies, including miR-9, which prevents progerin accumulation in HGPS neurons. " 02/01/2022 - "Changes in the expression of specif ic microRNAs were also revealed in laminopathies. " 01/01/2018 - "This review provides an overview of the current knowledge of the functional relevance and molecular insights of miRNAs in laminopathies. " 01/01/2018 - "The recent literature has described the potential implication of several other miRNAs in the pathophysiology of laminopathies, mostly by exerting deleterious effects. " 11/01/2011 - "Our findings are the first to demonstrate that miRNA expression is affected in laminopathies."
5.	TransferasesIBA 10/04/2005 - "These results suggest that farnesyl transferase inhibitors represent a possible therapeutic option for individuals with HGPS and/or other laminopathies due to Zmpste24 processing defects." 06/10/2007 - "Finally, promising novel treatment modalities for laminopathies, such as farnesyl transferase inhibition and gene-based therapies, might help not only to illuminate mechanisms that link genotype to phenotype, but also to provide hope for patients suffering with laminopathies, since these treatments are designed to modulate key early or proximal steps in the pathogenesis of these disorders."
6.	EverolimusFDA Link 01/01/2018 - "These preclinical results suggest that everolimus might have clinical benefit for multiple laminopathy syndromes." 01/01/2018 - "To test this, we applied everolimus to fibroblast cell lines from six laminopathy patients, each with a different mutation in LMNA Everolimus treatment increased proliferative ability and delayed senescence in all cell lines. " 01/01/2018 - "Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts." 01/01/2018 - "Correction for DuBose et al., Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts." 01/01/2018 - "Since other laminopathies also result in production of abnormal and potentially toxic lamin proteins, we hypothesized that everolimus would also be beneficial in those disorders. "
7.	Lamin Type A (Lamin A)IBA 10/01/2021 - "This study found that AIMP3 overexpression in vitro decreased lamin A expression and induced nuclear laminopathy and cellular senescence. " 04/01/2015 - "The purpose of this study was to assess genotype-phenotype correlations in a lipodystrophic laminopathy caused by the Lamin A (LMNA) mutation T655fsX49. " 06/18/2012 - "A recent study showed that mis-accumulation of SUN1 underlies the pathology of degenerative features in laminopathies, and concomitantly suggests a gain-of-function versus a loss-of-function model for the action of lamin A mutants." 01/01/2024 - "Lamin A/C's lifetime is an order of magnitude longer in the aorta, heart, and fat, where laminopathy pathology is apparent, than in the liver and intestine, which are spared from the disease. " 12/01/2023 - "Thus, different signaling pathways, networks, molecular and cellular functions are activated/inactivated by lamin A/C transcript variants resulting in a large number of laminopathies."
8.	prelamin AIBA 01/01/2022 - "In this context, it becomes more obvious how farnesylated prelamin A accumulation to toxic levels alters timing of DNA damage signaling and 53BP1 recruitment, thus contributing to cellular senescence and accelerated organismal aging as observed in progeroid laminopathies." 01/01/2019 - "Prelamin A accumulation has been found in all progeroid laminopathies and is obviously linked to cell and organism aging. " 01/01/2016 - "Finally, we show that specific laminopathy-associated mutations exhibit both positive and negative effects on prelamin A accumulation, indicating that these mutations affect prelamin A processing efficiency in different manners. " 01/01/2016 - "Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders." 08/01/2014 - "The results suggest that impaired nuclear transport of certain prelamin A mutants may represent a contributing factor in the pathogenesis of certain laminopathies. "
9.	ChromatinIBA 01/01/2023 - "In this review, we highlight emerging data that suggest interlinked chromatin- and mechanical biology-related pathways are interconnected in the pathogenesis of laminopathies." 01/01/2023 - "In this review, we explore the chromatin-related consequences of laminopathy-linked mutations through the lens of mechanotransduction. " 01/01/2023 - "InterLINCing Chromatin Organization and Mechanobiology in Laminopathies." 01/01/2023 - "The nuclear lamina serves important roles in chromatin organization and structural support, and lamina mutations can result in laminopathies. " 01/01/2023 - "The aetiology of laminopathies has been attributed to perturbation of chromatin organization or structural weakening of the nuclear envelope (NE) such that the nucleus becomes more prone to mechanical damage. "
10.	emerinIBA 12/01/2008 - "These results indicate a new function for emerin in cell polarization and suggest that laminopathies are not directly associated with cells' inability to polarize, but rather with cytoplasmic softening and weakened adhesion mediated by the disruption of the LINC complex across the nuclear envelope." 01/01/2019 - "Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients." 12/15/2018 - "We propose that cytoplasmic membrane localization of emerin leads to rupture of nuclei that are more sensitive to mechanical perturbation, findings that may be relevant to early development and certain laminopathies." 12/01/2005 - "These are termed laminopathies, with mutations in emerin causing Emery-Dreifuss muscular dystrophy. " 01/01/2019 - "These results indicate that EH mouse is a suitable model for studying skeletal muscle involvement, independent of cardiac function, in laminopathies and an interaction between emerin and lamin A/C in different tissues."

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "This model is helpful to study the phenotype, mechanism, and therapy for laminopathy." 10/21/2021 - "This review is focused on these therapies with a strong focus on striated muscle laminopathies and premature ageing syndromes." 10/21/2021 - "Preclinical Advances of Therapies for Laminopathies." 10/01/2021 - "[When oncology research opens a path toward a therapy for a laminopathy]." 01/01/2018 - "Our results lay the foundation for future iPSC-based therapy development and screening platforms for skeletal muscle laminopathies."
2.	Transplantation 05/01/2013 - "Our aim was to compare the integration and functional efficacy of ESC committed to cardiac fate by bone morphogenic protein 2 (BMP-2) pretreatment and Mb used as gold standard following their transplantation into the myocardium of a mouse model of laminopathy exhibiting a progressive and lethal DCM. "
3.	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 11/01/2021 - "A laminopathy was suspected and if this was confirmed from genetic testing the plan was to upgrade to an implantable defibrillator. " 01/01/2019 - "In comparison with the current standard of care, this risk prediction model for LTVTA in laminopathies significantly facilitated the choice of candidates for implantable cardioverter defibrillators. "
4.	Precision Medicine 01/01/2021 - "Precision medicine in laminopathies: insights from the REDLAMINA registry."
5.	Defibrillators (Defibrillator) 01/01/2023 - "Timing of cardioverter-defibrillator implantation in patients with cardiac laminopathies-External validation of the LMNA-risk ventricular tachyarrhythmia calculator."