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:

Networked: 80 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
3.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
4.	Muscular Diseases (Myopathy)
5.	Walker-Warburg Syndrome

Experts

1.	Angelini, C: 4 articles (05/2003 - 01/2000)
2.	Angelini, Corrado: 3 articles (12/2014 - 11/2005)
3.	Fanin, Marina: 3 articles (12/2014 - 07/2008)
4.	Sandonà, Dorianna: 3 articles (07/2014 - 07/2008)
5.	Betto, Romeo: 3 articles (07/2014 - 07/2008)
6.	Gayathri, N: 3 articles (06/2012 - 04/2011)
7.	Nalini, A: 3 articles (06/2012 - 04/2011)
8.	Fanin, M: 3 articles (05/2003 - 01/2000)
9.	Anderson, L V: 3 articles (08/2001 - 01/2001)
10.	Ozawa, E: 3 articles (04/2001 - 04/2000)

Drugs and Biologics

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

1.	Sarcoglycans (beta Sarcoglycan)IBA 01/01/2009 - "Proper assembly, trafficking and targeting of the sarcoglycan complex is of vital importance, and mutations that severely perturb tetramer formation and localisation result in sarcoglycanopathy. " 07/01/2008 - "The proper assembly of the sarcoglycan complex represents a critical issue of sarcoglycanopathies, as several mutations severely perturb tetramer formation. " 01/01/2007 - "Furthermore, there are unclear data about the actual role of sarcoglycans in human skeletal muscle affected by sarcoglycanopathies. " 11/01/2004 - "Among them, gene defects in the sarcoglycan complex (sarcoglycanopathy) have been added to LGMD2C-2F. " 09/01/2002 - "Here, we report construction and use of AAV vectors expressing either alpha- or beta-sarcoglycan, the genes responsible for the most common forms of the human sarcoglycanopathies. "
2.	Limb-girdle muscular dystrophy type 2AIBA 01/01/2001 - "The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C-2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients." 09/01/2003 - "A gender difference in the severity of the phenotype might exist for some forms of autosomal recessive-limb-girdle muscular dystrophy, such as calpainopathy and telethoninopathy but not for others, such as dysferlinopathies or sarcoglycanopathies. " 09/01/2014 - "Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. " 02/01/2008 - "The order of decreasing clinical severity was: sarcoglycanopathy, calpainopathy, dysferlinopathy, and caveolinopathy. " 10/01/2006 - "From this combined evaluation, the distribution of immunophenotypes is 12% calpainopathy, 18% dysferlinopathy, 15% sarcoglycanopathy, 15% dystroglycanopathy, and 1.5% caveolinopathy. "
3.	Proteins (Proteins, Gene)IBA 12/01/2004 - "Other tested proteins of the two systems show a normal staining pattern in both sarcoglycanopathies. " 01/16/1999 - "The immunohistochemical analysis of several cytoskeletal and transmembrane proteins as well as Western blot analysis, are necessary to elaborate a correct diagnosis of dystrophinopathies, sarcoglycanopathies and the different forms of congenital muscular dystrophy [REV NEUROL 1999; 28: 154-8]." 07/01/2008 - "As in muscles of sarcoglycanopathy patients, transfection of betagammadelta-HEK cells with disease-causing alpha-sarcoglycan mutants led to dramatic reduction of the mutated proteins and the absence of the complex from the cell surface. " 07/01/2008 - "Sarcoglycanopathies are progressive muscle-wasting disorders caused by genetic defects of four proteins, alpha-, beta-, gamma-, and delta-sarcoglycan, which are elements of a key transmembrane complex of striated muscle. " 02/01/2001 - "Four sarcoglycan subunit proteins, alpha-, beta-, gamma- and delta-sarcoglycans, form a complex on the skeletal muscle cell surface membrane and a gene defect in any one of them causes the loss or marked decrease of whole sarcoglycan complex, resulting in an autosomal recessive muscular dystrophy, sarcoglycanopathy. "
4.	DysferlinopathyIBA 06/01/2012 - "While the study revealed a consistent pattern of calpain-3 in DMD, one sarcoglycanopathy and three dysferlinopathy samples exhibited secondary reduction in calpain-3. " 04/01/2011 - "Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%)." 01/01/2000 - "Dysferlinopathy and sarcoglycanopathy have different and selective muscle involvement. " 01/01/2000 - "In dysferlinopathy, distal lower-limb muscles are involved, while in sarcoglycanopathy proximal muscles are more affected. " 01/01/2000 - "Patients with a definite diagnosis of dysferlinopathy and sarcoglycanopathy were tested for their clinical functions and muscle strength and assigned a functional grade. "
5.	Dystroglycans (Dystroglycan)IBA 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). " 07/15/2001 - "Dysfunction of the dystroglycan complex has commonly been implicated in the molecular pathogenesis of severe forms of hereditary neuromuscular diseases, including Duchenne muscular dystrophy, Fukuyama-type congenital muscular dystrophy and sarcoglycanopathy (LGMD2C, -D, -E and -F). "
6.	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. " 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. "
7.	Miyoshi myopathyIBA 01/01/2001 - "The pattern of muscular dystrophy is essentially uniform and has clearly distinct features (involving mainly the initial pattern of muscle involvement and the mode of gait) which differ significantly from the well reported clinical features associated with sarcoglycanopathy, calpainopathy and Miyoshi myopathy." 05/01/2005 - "In this study, we investigated the proteolysis of beta-dystroglycan in the biopsied skeletal muscles of various human muscular diseases, including sarcoglycanopathy, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Fukuyama congenital muscular dystrophy, Miyoshi myopathy, LGMD2A, facioscapulohumeral muscular dystrophy, myotonic dystrophy and dermatomyositis/polymyositis. "
8.	SteroidsIBA 10/01/2014 - "Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies." 10/01/2014 - "To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. " 10/01/2014 - "Clinical aspects of patients with sarcoglycanopathies under steroids therapy."
9.	Muscle Proteins (Muscle Protein)IBA 06/01/1999 - "We have studied the immunohistochemical expression of 14 different muscle proteins of the basal lamina, sarcolemma and cytoskeleton in primary sarcoglycanopathies (13 cases) and compared it with Duchenne dystrophy (6 cases) and myositis (5 cases). " 06/01/1999 - "Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins."
10.	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. "