Sarcoglycanopathies

Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.

Also Known As:

Adhalinopathies; Adhalinopathy, Primary; Alpha-Sarcoglycanopathies; Alpha-Sarcoglycanopathy; Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; LGMD2D; Limb-Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency; Muscular Dystrophy, Limb-Girdle, Type 2D; Sarcoglycanopathy; Adhalinopathies, Primary; Alpha Sarcoglycanopathies; Alpha Sarcoglycanopathy; Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2; Limb Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency; Primary Adhalinopathies; Primary Adhalinopathy

Networked: 158 relevant articles (3 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Fibrosis (Cirrhosis)
3.	Sarcoglycanopathies
4.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
5.	Limb-girdle muscular dystrophy type 2A

Experts

1.	Richard, Isabelle: 13 articles (03/2020 - 01/2007)
2.	Poupiot, Jérôme: 7 articles (12/2019 - 01/2007)
3.	Straub, Volker: 5 articles (01/2022 - 12/2008)
4.	Sandonà, Dorianna: 5 articles (03/2020 - 07/2008)
5.	Leturcq, France: 5 articles (01/2018 - 07/2008)
6.	Angelini, Corrado: 5 articles (01/2016 - 11/2005)
7.	Bruno, Claudio: 4 articles (01/2022 - 01/2018)
8.	Rodino-Klapac, Louise R: 4 articles (01/2021 - 09/2009)
9.	Pegoraro, Elena: 4 articles (01/2020 - 11/2005)
10.	Udd, Bjarne: 4 articles (01/2020 - 05/2008)

Drugs and Biologics

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

1.	Sarcoglycans (beta Sarcoglycan)IBA 01/01/2018 - "It represents the proof of principle of a pharmacological strategy that acts on the sarcoglycan maturation process and we believe it has a great potential to develop as a cure for most of the patients with LGMD2D." 09/01/2022 - "This study provides a sensitive tool for semi-quantification of residual amount of sarcoglycans in patients affected by sarcoglycanopathies, based on immunofluorescence staining on skeletal muscle sections, image acquisition and software elaboration. " 01/01/2019 - "The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them. " 01/01/2014 - "In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. " 07/22/2008 - "Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. " 07/01/1999 - "We suggest that direct gene mutation detection is more reliable than linkage or protein study in the prenatal diagnosis of sarcoglycanopathies." 01/01/2022 - "Similar to other forms of sarcoglycanopathies, the severity and rate of progressive weakness correlates inversely with the abundance of protein on muscle biopsy." 03/06/2020 - "We treated differentiated myogenic cells from both sarcoglycanopathy and healthy donors, evaluating the global rescue and the sarcolemma localization of the mutated protein, by biotinylation assays and western blot analyses. " 06/01/2019 - "The discovery of this new mutation could broaden the spectrum of SGCA mutations, which may be associated with putative LGMD2D, especially when all the four proteins are completely missing."
3.	nintedanibIBA 10/19/2022 - "We report the positive effect of nintedanib in a murine model of alpha-sarcoglycanopathy. " 10/19/2022 - "Nintedanib improved muscle function and muscle architecture by reducing muscle fibrosis and degeneration and reverting the chronic inflammatory environment suggesting that it could be a useful therapy for patients with alpha-sarcoglycanopathy."
4.	Dystroglycans (Dystroglycan)IBA 10/14/2017 - "Double-targeting of MMP-2 and MMP-9 cannot prevent cleavage of β-dystroglycan in sarcoglycanopathy. " 05/01/2005 - "We propose that the proteolysis of beta-dystroglycan may contribute to skeletal muscle degeneration by disrupting the link between the ECM and cell membrane in sarcoglycanopathy and DMD." 05/01/2005 - "We show that the 30 kDa fragment of beta-dystroglycan is increased significantly in sarcoglycanopathy and DMD, but not in the other diseases. " 05/01/2005 - "We also reported that the 30 kDa fragment of beta-dystroglycan was increased in the skeletal and cardiac muscles of cardiomyopathic hamsters, the model animals of sarcoglycanopathy, and that this resulted in the disruption of the link between the ECM and cell membrane via the dystroglycan complex. " 12/01/2003 - "Although defects of the dystroglycan gene have not been identified as the primary causes of hereditary diseases in humans, secondary but significant abnormalities of the dystroglycan complex have been revealed in severe muscular dystrophies, including sarcoglycanopathy (LGMD2C, D, E and F). "
5.	DNA (Deoxyribonucleic Acid)IBA 10/01/2007 - "Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. " 01/01/2014 - "In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar. " 01/01/2011 - "We believe it is the first confirmed case of primary alpha-sarcoglycanopathy identified in Albania which support the assumption of a wide geographic prevalence of severe childhood onset of autosomal recessive muscular dystrophy, We show that muscle biopsy and DNA diagnosis remains the most sensitive and specific method for differential diagnosis." 09/01/2008 - "We have analyzed a series of 35 DNA samples from patients affected with cystic fibrosis (CF), Duchenne and Becker muscular dystrophies (DMD/BMD), or sarcoglycanopathies, and have characterized exonic copy-number changes that have been validated with other methods. " 01/01/2011 - "DNA analysis demonstrated homozygosity for a pathogenic point mutation (574C>T) in the alpha-sarcoglycan gene, confirming the diagnosis of limb-girdle muscular dystrophy type 2D. "
6.	MyostatinIBA 01/01/2022 - "In this study, we investigated the effects of sequestering myostatin by a soluble activin type IIB receptor (sActRIIB) on muscle growth in Sgca-null mice, modelling LGMD2D. " 05/01/2007 - "In this report, we tested the inhibition of myostatin by AAV-mediated expression of a mutated propeptide in animal models of two limb-girdle muscular dystrophies: LGMD2A caused by mutations in the calpain 3 (CAPN3) gene and LGMD2D caused by mutations in the alpha-sarcoglycan gene (SGCA). "
7.	IntegrinsIBA 12/01/2004 - "Our results, acquired with an immunofluorescence study on adult human skeletal muscle affected by LGMD type 2D and 2C, showed that in LGMD2D: a) alpha-sarcoglycan staining is severely reduced; b) the beta-gamma-delta-sarcoglycan subunit and all tested integrins staining are clearly detectable; c) filamin2 is normal and shows a costameric distribution. " 01/01/2007 - "Our data on skeletal muscle affected by sarcoglycanopathy confirmed the hypothesis of a bidirectional signaling between sarcoglycans and integrins and the interaction of filamin2 with both sarcoglycans and integrins. "
8.	Membrane Proteins (Integral Membrane Proteins)IBA 05/01/1999 - "The aim of this study was to reveal variations in the patterns of expression of the cell surface proteins in regenerating fibers and those in the number of satellite cells to gain an understanding of the pathological processes involved in sarcoglycanopathy. " 01/01/2023 - "Sarcoglycanopathies, limb-girdle muscular dystrophies (LGMD) caused by genetic loss-of-function of the membrane proteins sarcoglycans (SGs), are characterized by progressive degeneration of skeletal muscle. "
9.	Activins (Activin)IBA 01/01/2022 - "The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model." 01/01/2022 - "In this study, we investigated the effects of sequestering myostatin by a soluble activin type IIB receptor (sActRIIB) on muscle growth in Sgca-null mice, modelling LGMD2D. "
10.	Vasodilator Agents (Vasodilators)IBA 11/01/1999 - "In Duchenne dystrophy, but not in sarcoglycanopathies, correction for cardiac workload normalized the coronary vasodilator reserve. " 11/01/1999 - "In contrast, baseline myocardial blood flow was increased and coronary vasodilator reserve blunted in Duchenne and sarcoglycanopathy patients despite normal hyperemic myocardial blood flow. " 11/01/1999 - "We used positron emission tomography (PET) to study myocardial blood flow and coronary vasodilator reserve at baseline and during hyperemia in 7 Duchenne, 8 Becker, and 5 sarcoglycanopathy patients. "

Therapies and Procedures

1.	Therapeutics 03/06/2020 - "In conclusion, our results strengthen the idea that CFTR correctors, acting probably as proteostasis modulators, have the potential to progress as therapeutics for sarcoglycanopathies caused by missense mutations." 01/01/2019 - "RevAMP(K)ing Mitochondria for Sarcoglycanopathy Therapeutics." 07/01/2008 - "These data provide important insights for the potential development of pharmacological therapies for sarcoglycanopathies." 03/06/2020 - "Recently, we repurposed small molecules screened for cystic fibrosis as potential therapeutics in sarcoglycanopathy. " 09/28/2009 - "This review summarises the etiopathogenesis of sarcoglycanopathies and highlights the quality control machinery as a potential pharmacological target for therapy of these genetic disorders."
2.	Intra-Arterial Injections 01/01/2007 - "In contrast, efficient and sustained transgene expression with correct sarcolemmal localization and without evident toxicity was obtained with the muscle-specific promoter after intra-arterial injection into the limbs of an LGMD2D murine model. " 01/01/2007 - "In contrast, efficient and sustained transgene expression with correct sarcolemmal localization and without evident toxicity was obtained with the muscle-specific promoter after intra-arterial injection into the limbs of an LGMD2D murine model. "
3.	Cell- and Tissue-Based Therapy (Cell Therapy) 06/27/2012 - "Here, we show that patients with a related disease, limb-girdle muscular dystrophy 2D (LGMD2D), which is caused by mutations in the gene encoding α-sarcoglycan, have reduced numbers of this pericyte subset and thus produce too few mesoangioblasts for use in autologous cell therapy. "
4.	Precision Medicine 01/01/2023 - "In addition, new medications directly targeting the altered protein responsible for the phenotype are becoming available (including the myosin inhibitors mavacantem and aficamten, monoclonal antibodies against Ras-MAPK, genetic therapies for sarcoglycanopathies), thus making a precision medicine approach less unrealistic even in the field of cardiomyopathies. "
5.	Transplantation 06/27/2012 - "These findings suggest that transplantation of genetically corrected mesoangioblast-like cells generated from iPSCs from LGMD2D patients may be useful for treating this type of muscular dystrophy and perhaps other forms of muscular dystrophy as well."