The SGCD gene provides instructions for making the delta component (subunit) of a group of proteins called the sarcoglycan protein complex. The sarcoglycan protein complex is located in the membrane surrounding muscle cells. It helps maintain the structure of muscle tissue by attaching (binding) to and stabilizing the dystrophin complex, which is made up of proteins called dystrophins and dystroglycans. The large dystrophin complex strengthens muscle fibers and protects them from injury as muscles tense (contract) and relax. The dystrophin complex acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).
Health Conditions Related to Genetic Changes
Limb-girdle muscular dystrophy
At least 14 mutations in the SGCD gene have been identified in people with limb-girdle muscular dystrophy type 2F. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. People with limb-girdle muscle dystrophy type F have SGCD mutations in both copies of the gene in each cell (autosomal recessive inheritance pattern).
A small number of people with limb-girdle muscular dystrophy type 2F have developed a heart condition called dilated cardiomyopathy. Dilated cardiomyopathy is a form of heart disease that enlarges and weakens the heart (cardiac) muscle, preventing it from pumping blood efficiently. Dilated cardiomyopathy progresses rapidly and can be life-threatening.
Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies. SGCD gene mutations may prevent the sarcoglycan complex from forming or from binding to and stabilizing the dystrophin complex. Problems with these complexes reduce the strength and resilience of muscle fibers and result in the signs and symptoms of limb-girdle muscular dystrophy.More About This Health Condition
Familial dilated cardiomyopathy
MedlinePlus Genetics provides information about Familial dilated cardiomyopathyMore About This Health Condition
A small number of people who develop dilated cardiomyopathy without skeletal muscle involvement have been found to have a mutation in one copy of the SGCD gene in each cell, an inheritance pattern called autosomal dominant.
Since other individuals with one SGCD gene mutation in each cell have normal heart muscle, some researchers question whether SGCD gene mutations are related to autosomal dominant dilated cardiomyopathy.
Other Names for This Gene
- 35 kDa dystrophin-associated glycoprotein
- 35kD dystrophin-associated glycoprotein
- placental delta sarcoglycan
- sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
- Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009.17. Epub 2009 Mar 4. Citation on PubMed or Free article on PubMed Central
- Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review. Citation on PubMed
- Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta. 2005 Nov;361(1-2):54-79. Review. Citation on PubMed
- Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Review. Citation on PubMed
- Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000 Feb 1-15;48(3-4):167-80. Review. Citation on PubMed
- Meena AK, Sreenivas D, Sundaram C, Rajasekhar R, Sita JS, Borgohain R, Suvarna A, Kaul S. Sarcoglycanopathies: a clinico-pathological study. Neurol India. 2007 Apr-Jun;55(2):117-21. Citation on PubMed
- Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005 Nov;32(5):563-76. Review. Citation on PubMed
- Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203. Review. Citation on PubMed or Free article on PubMed Central
- Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. Citation on PubMed
- Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Citation on PubMed
- Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000 Sep;106(5):655-62. Citation on PubMed or Free article on PubMed Central