Selective Defect of Sarcoglycan Complex in Severe Childhood Autosomal Recessive Muscular Dystrophy Muscle

Mizuno, Yuji; Noguchi, S.; Yamamoto, Hiroyuki; Yoshida, Motoaki; Suzuki, Atsushi; Hagiwara, Yasuko; Hayashi, Yukiko; Arahata, Kiichi; Nonaka, Ikuya; Hirai, S; Ozawa, Eijiro

doi:10.1006/bbrc.1994.2278

Cited by 67 publications

(39 citation statements)

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“…In biopsied muscles of the patients, all SGs including "8-SG" were shown to be absent. Based on our sarcoglycanopathy hypothesis that the gene defect of every SG causes SCARMD [5,8], all these facts strongly suggest that "8-SG" is an SG and this protein should be found in the SG complex. In the present study, we biochemically found 8-SG, whose natures are consistent with "8-SG".…”

Section: Discussionmentioning

confidence: 99%

“…Abbreviations: DAP, dystrophin-associated protein; DSP, dithiobis-(succinimidyl propionate); GST, glutathione S-transferase; SCARMD, severe childhood autosomal-recessive muscular dystrophy; SG, sarcoglycan from a Duchenne-like muscular dystrophy, namely, severe childhood autosomal-recessive muscular dystrophy (SCARMD), and hypothesized that SCARMD is a SG complex-deficiency disease, namely, a sarcoglycanopathy [5,8]. In this hypothesis we assumed that the SG complex is a functional unit and that, if any SG gene is defective, the complex would not be formed and fixed on the sarcolemma.…”

Section: Introductionmentioning

confidence: 99%

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The fourth component of the sarcoglycan complex

et al. 1997

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We found a novel dystrophin-associated protein (DAP) exhibiting almost the same mobility as y-sarcoglycan on SDS-PAGE. This novel DAP with basic charge is separated from y-sarcoglycan by 2-dimensional PAGE or de-/V-glycosylation followed by SDS-PAGE. This DAP is most likely the rabbit homologue of "8-sarcoglycan", the y-sarcoglycan-like protein identified previously |Nigro et al. (1996) Hum. Mol. Genet. 5, 1179-1186], since an internal amino acid sequence from the DAP matched the predicted amino acid sequence of "human 8-sarcoglycan" within the limits of species difference and this DAP was recognized by anti-"5-sarcoglycan" antibody. The DAP was found to be contained in the sarcoglycan fraction which was prepared by treatment of the dystrophin-DAP complex with n-octyl ß-D-glucoside and crosslinked with ß-and/or y-sarcoglycan by a chemical crosslinker, dithiobis(succinimidyl propionate). Therefore, we concluded that the DAP is the fourth component of the sarcoglycan complex.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The fourth component of the sarcoglycan complex

et al. 1997

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“…The sarcoglycan complex (Fig. 9) consists of four subunits: ␣-, ␤-, ␥-, and ␦-sarcoglycan (587,643). All four of these genes have been implicated in various forms of limb-girdle muscular dystrophy (LGMD), and many of them have significant cardiac phenotypes.…”

Section: Sarcoglycansmentioning

confidence: 99%

Designing Heart Performance by Gene Transfer

Davis¹,

Westfall²,

Townsend³

et al. 2008

Physiological Reviews

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The birth of molecular cardiology can be traced to the development and implementation of high-fidelity genetic approaches for manipulating the heart. Recombinant viral vector-based technology offers a highly effective approach to genetically engineer cardiac muscle in vitro and in vivo. This review highlights discoveries made in cardiac muscle physiology through the use of targeted viral-mediated genetic modification. Here the history of cardiac gene transfer technology and the strengths and limitations of viral and nonviral vectors for gene delivery are reviewed. A comprehensive account is given of the application of gene transfer technology for studying key cardiac muscle targets including Ca2+handling, the sarcomere, the cytoskeleton, and signaling molecules and their posttranslational modifications. The primary objective of this review is to provide a thorough analysis of gene transfer studies for understanding cardiac physiology in health and disease. By comparing results obtained from gene transfer with those obtained from transgenesis and biophysical and biochemical methodologies, this review provides a global view of cardiac structure-function with an eye towards future areas of research. The data presented here serve as a basis for discovery of new therapeutic targets for remediation of acquired and inherited cardiac diseases.

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“…No effective treatment is available. 14,[19][20][21][22][23][24][25][26][27][28] The sarcoglycans are relatively small (cDNA Ͻ2 kb), transmembrane glycoproteins. The four commonly known sarcoglycans (␣, ␤, ␥ and ␦) associate with each other in equal stoichiometry forming a hetero-tetramer, namely the sarcoglycan complex.…”

Section: Introductionmentioning

confidence: 99%

rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy

et al. 1999

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The limb girdle muscular dystrophies (LGMD) are a genetisarcoglycan-deficient hamster model (Bio14.6). We show cally and phenotypically heterogeneous group of degenerefficient delivery and widespread expression of ␦-sarcoglyative neuromuscular diseases. A subset of the genetically can after a single intramuscular injection. Importantly, rAAV recessive forms of LGMD are caused by mutations in the vector containing the human ␦-sarcoglycan cDNA restored four muscle sarcoglycan genes (␣, ␤, ␥ and ␦). The coding secondary biochemical deficiencies, with correct localizsequences of all known sarcoglycan genes are smaller ation of other sarcoglycan proteins to the muscle fiber than 2 kb, and thus can be readily packaged in recombimembrane. Interestingly, restoration of ␣-, as well as ␤-nant adeno-associated virus (rAAV) vectors. Previously, sarcoglycan was homogeneous and properly localized we have demonstrated highly efficient and sustained transthroughout transduced muscle, and appeared unaffected duction in mature muscle tissue of immunocompetent aniby dramatic overexpression of ␦-sarcoglycan in the cytomals with rAAV vectors. In this report, we utilize recombiplasm of some myofibers. These results support the feasinant AAV containing the ␦-sarcoglycan gene for genetic bility of rAAV vector's application to treat LGMD by means complementation of muscle diseases using a ␦-of direct in vivo gene transfer.

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Selective Defect of Sarcoglycan Complex in Severe Childhood Autosomal Recessive Muscular Dystrophy Muscle

Cited by 67 publications

References 0 publications

The fourth component of the sarcoglycan complex

The fourth component of the sarcoglycan complex

Designing Heart Performance by Gene Transfer

rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy

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