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中华医学杂志 1993年第8期73卷 468-468页

作者：李津婴万树栋叶煦亭第二军医大学附属长海医院血液科第二军医大学附属长海医院电镜室

患者女,36岁,脾大黄疸史20余年,1992年4月来本院就诊。父母近亲婚配(表兄妹)。 1.常规实验室检查:(1)血象、骨髓象:Hb80g/L,网红细胞0.16,网红指数3.7,红系增生活跃提示溶贫骨髓象。(2)幻红细胞形态:干片中成熟红细胞中度大小不均,小红... 详细信息

患者女,36岁,脾大黄疸史20余年,1992年4月来本院就诊。父母近亲婚配(表兄妹)。 1.常规实验室检查:(1)血象、骨髓象:Hb80g/L,网红细胞0.16,网红指数3.7,红系增生活跃提示溶贫骨髓象。(2)幻红细胞形态:干片中成熟红细胞中度大小不均,小红细胞有球变倾向,大红细胞

关键词：红细胞膜贫血溶血性/病因学细胞支架蛋白质类/缺乏

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Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy

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CELL 1999年第4期98卷 465-474页

作者： Coral-Vazquez, R Cohn, RD Moore, SA Hill, JA Weiss, RM Davisson, RL Straub, V Barresi, R Bansal, D Hrstka, RF Williamson, R Campbell, KP Univ Iowa Coll Med Howard Hughes Med Inst Dept Physiol & Biophys Iowa City IA 52242 USA Univ Iowa Coll Med Dept Neurol Iowa City IA 52242 USA Univ Iowa Coll Med Dept Pathol Iowa City IA 52242 USA Univ Iowa Coll Med Dept Obstet & Gynecol Iowa City IA 52242 USA Dept Vet Affairs Iowa City IA 52242 USA Univ Iowa Dept Anat & Cell Biol Iowa City IA 52242 USA Univ Iowa Dept Internal Med Iowa City IA 52242 USA

To investigate mechanisms in the pathogenesis of cardiomyopathy associated with mutations of the dystrophin-glycoprotein complex, we analyzed genetically engineered mice deficient for either alpha-sarcoglycan (Sgca) or delta-sarcoglycan (Sgcd). We found that only Sgcd null mice developed cardiomyopathy with focal areas of necrosis as the histological hallmark in cardiac and skeletal muscle. Absence of the sarcoglycan-sarcospan (SG-SSPN) complex in skeletal and cardiac membranes was observed in both animal models. Loss of vascular smooth muscle SG-SSPN complex was only detected in Sgcd null mice and associated with irregularities of the coronary vasculature. Administration of a vascular smooth muscle relaxant prevented onset of myocardial necrosis. Our data indicate that disruption of the SG-SSPN complex in vascular smooth muscle perturbs vascular function, which initiates cardiomyopathy and exacerbates muscular dystrophy.

关键词：心肌病扩张型/遗传学心肌病扩张型/代谢心肌病扩张型/病理学载体蛋白质类/生理学冠状血管/病理学细胞支架蛋白质类/缺乏细胞支架蛋白质类/遗传学细胞支架蛋白质类/生理学大分子物质膜糖蛋白类/缺乏膜糖蛋白类/遗传学膜糖蛋白类/生理学膜蛋白质类/生理学小鼠基因敲除肌平滑血管/代谢肌平滑血管/病理学肌营养不良动物/遗传学肌营养不良动物/代谢肌营养不良动物/病理学心肌/病理学坏死肿瘤蛋白质类肌聚糖类动物小鼠

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Muscle degeneration without mechanical injury in sarcoglycan deficiency

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 1999年第19期96卷 10723-10728页

作者： Hack, AA Cordier, L Shoturma, DI Lam, MY Sweeney, HL McNally, EM Univ Chicago Dept Med Cardiol Sect Chicago IL 60637 USA Univ Chicago Dept Mol Genet & Cell Biol Chicago IL 60637 USA Univ Penn Sch Med Dept Physiol Philadelphia PA 19104 USA

In humans, mutations in the genes encoding components of the dystrophin-glycoprotein complex cause muscular dystrophy. Specifically, primary mutations in the genes encoding alpha-, beta-, gamma-, and delta-sarcoglycan have been identified in humans with limb-girdle muscular dystrophy. Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. Without gamma-sarcoglycan, beta- and delta-sarcoglycan are unstable at the muscle membrane and alpha-sarcoglycan is severely reduced. The expression and localization of dystrophin, dystroglycan, and laminin-alpha 2, a mechanical link between the actin cytoskeleton and the extracellular matrix, appears unaffected by the loss of sarcoglycan. We assessed the functional integrity of this mechanical link and found that isolated muscles lacking gamma-sarcoglycan showed normal resistance to mechanical strain induced by eccentric muscle contraction. Sarcoglycan-deficient muscles also showed normal peak isometric and tetanic force generation. Furthermore, there was no evidence for contraction-induced injury in mice lacking gamma-sarcoglycan that were subjected to an extended, rigorous exercise regimen. These data demonstrate that mechanical weakness and contraction-induced muscle injury are not required for muscle degeneration and the dystrophic process. Thus, a nonmechanical mechanism, perhaps involving some unknown signaling function, likely is responsible for muscular dystrophy where sarcoglycan is deficient.

关键词：年龄因素体重肌酸激酶/血液细胞支架蛋白质类/缺乏细胞支架蛋白质类/遗传学细胞支架蛋白质类/生理学膜糖蛋白类/缺乏膜糖蛋白类/遗传学膜糖蛋白类/生理学肌骨骼/解剖学和组织学肌骨骼/损伤肌骨骼/生理学肌营养不良动物/酶学诱变身体条件作用动物/生理学肌聚糖类应力物理时间因素动物小鼠

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Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

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MOLECULAR CELL 2000年第1期5卷 141-151页

作者： Durbeej, M Cohn, RD Hrstka, RF Moore, SA Allamand, V Davidson, BL Williamson, RA Campbell, KP Univ Iowa Coll Med Howard Hughes Med Inst Dept Physiol & Biophys Iowa City IA 52242 USA Univ Iowa Coll Med Howard Hughes Med Inst Dept Neurol Iowa City IA 52242 USA Univ Iowa Coll Med Howard Hughes Med Inst Dept Obstet & Gynecol Iowa City IA 52242 USA Univ Iowa Coll Med Howard Hughes Med Inst Dept Pathol Iowa City IA 52242 USA Univ Iowa Coll Med Howard Hughes Med Inst Dept Internal Med Iowa City IA 52242 USA

Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the beta-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscle. beta-sarcoglycan-deficient (Sgcb-null) mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan-sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. epsilon-sarcoglycan was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct epsilon-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. Thus, perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E.

关键词：心肌疾病/遗传学心肌疾病/病理学细胞支架蛋白质类/缺乏细胞支架蛋白质类/遗传学细胞支架蛋白质类/生理学肌营养不良蛋白聚糖类肌营养不良蛋白/遗传学肺/病理学膜糖蛋白类/缺乏膜糖蛋白类/遗传学膜糖蛋白类/生理学小鼠基因敲除微粒体/病理学肌骨骼/病理学肌营养不良动物/遗传学肌营养不良动物/病理学心肌/病理学坏死动物小鼠

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Expression of γ-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex

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JOURNAL OF BIOLOGICAL CHEMISTRY 2000年第49期275卷 38554-38560页

作者： Barresi, R Moore, SA Stolle, CA Mendell, JR Campbell, KP Campbell, P Univ Iowa Coll Med Howard Hughes Med Inst Dept Physiol & Biophys Iowa City IA 52242 USA Univ Iowa Coll Med Dept Neurol Iowa City IA 52242 USA Univ Iowa Coll Med Dept Pathol Iowa City IA 52242 USA Univ Penn Sch Med Genet Diagnost Lab Philadelphia PA 19104 USA Ohio State Univ Dept Neurol Columbus OH 43210 USA

The sarcoglycan complex in striated muscle is a heterotetrameric unit integrally associated with sarcospan in the dystrophin-glycoprotein complex. The sarcoglycans, alpha, beta, gamma, and delta, are mutually dependent with regard to their localization at the sarcolemma, and mutations in any of the sarcoglycan genes lead to limb-girdle muscular dystrophies type 2C-2F. In smooth muscle beta- and delta -sarcoglycans are associated with epsilon -sarcoglycan, a glycoprotein homologous to alpha -sarcoglycan. Here, we demonstrate that gamma -sarcoglycan is also a component of the sarcoglycan complex in the smooth muscle. First, we show the presence of gamma -sarcoglycan in a number of smooth muscle containing organs, and we verify the existence of identical transcripts in skeletal and smooth muscle. The specificity of the expression of gamma -sarcoglycan in smooth muscle was confirmed by analysis of smooth muscle cells in culture. Next, we provide evidence for the association of gamma -sarcoglycan with the sarcoglycan-sarcospan complex by biochemical analysis and comparison among animal models for muscular dystrophy. Moreover, we find disruption of the sarcoglycan complex in the vascular smooth muscle of a patient with gamma -sarcoglycanopathy. Taken together, our results prove that the sarcoglycan complex in vascular and visceral smooth muscle consists of epsilon- beta-, gamma-, and delta -sarcogIycans and is associated with sarcospan.

关键词：氨基酸序列载体蛋白质类/代谢细胞支架蛋白质类/缺乏细胞支架蛋白质类/遗传学细胞支架蛋白质类/代谢肌营养不良蛋白聚糖类膜糖蛋白类/缺乏膜糖蛋白类/遗传学膜糖蛋白类/代谢膜蛋白质类/代谢小鼠近交C57BL 小鼠近交mdx 小鼠基因敲除分子序列数据肌骨骼/代谢肌平滑/代谢肌营养不良/遗传学肌营养不良/代谢肌营养不良/病理学肿瘤蛋白质类肌聚糖类转录遗传动物人类小鼠

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α-catenin-deficient F9 cells differentiate into signet ring cells

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AMERICAN JOURNAL OF PATHOLOGY 1999年第5期154卷 1323-1328页

作者： Maeno, Y Moroi, S Nagashima, H Noda, T Shiozaki, H Monden, M Tsukita, S Nagafuchi, A Kyoto Univ Fac Med Dept Cell Biol Sakyo Ku Kyoto 606 Japan Osaka Univ Sch Med Dept Surg 2 Osaka 553 Japan Tokyo Womens Med Coll Heart Inst Japan Tokyo 162 Japan Japanese Fdn Canc Res Inst Canc Dept Cell Biol Tokyo 170 Japan

It has been demonstrated that alpha-catenin is frequently lost in diffuse type adenocarcinomas. We have isolated alpha-catenin-deficient mouse teratocarcinoma F9 cells by gene targeting. Wild-type F9 cell aggregates cultured in the presence of retinoic acid differentiated into embryoid bodies with an outer layer of epithelial cells. In contrast, cell aggregates of alpha-catenin-deficient cells did not develop outer layers under the same conditions. The outer surface cells of alpha-catenin-deficient cell aggregates, however, differentiated into epithelial cells as determined by their expression of epithelial marker proteins. These differentiated cells scattered from aggregates and showed signet ring cell morphology, which is frequently observed in diffuse type adenocarcinomas. We have provided clear evidence that a single mutation in the alpha-catenin gene may be a direct cause not only of the scattered properties of cells but also of signet ring cell formation in diffuse type adenocarcinoma.

关键词：钙黏着糖蛋白类/生理学癌印戒细胞/病理学癌印戒细胞/病理生理学细胞分化/生理学克隆细胞/生理学细胞支架蛋白质类/缺乏上皮细胞/生理学形态发生肿瘤细胞培养的 α连环素动物小鼠

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Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations

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HUMAN GENETICS 2000年第2期107卷 160-164页

作者： Sieb, JP Kraner, S Rauch, M Steinlein, OK Univ Bonn Inst Human Genet D-53111 Bonn Germany Univ Hosp Bonn Dept Neurol D-53105 Bonn Germany Neurol Hosp Gilead D-33617 Bielefeld Germany

Congenital myasthenic syndromes (CMS) are inborn disorders due to presynaptic, synaptic, or postsynaptic defects of neuromuscular transmission. Some previously described kinships with typical signs of CMS showed a marked deficiency of acetylcholine receptors (AChR) and utrophin at the neuromuscular junctions. Additionally, the end-plate ultrastructure was immature, with reduced enfolding of the postsynaptic membrane. In two such families, we found truncating mutations of the epsilon-AChR subunit. In family 1, both affected siblings were heteroallelic for a epsilon 911delT and a epsilon IVS4+1G-->A mutation within the AChR epsilon-subunit gene (CHRNE). In the affected member of family 2, a epsilon 1030delC mutation and a previously described epsilon R64X mutation were found. These deleterious epsilon AChR mutations not only result in AChR deficiency. but also affect end-plate maturation, including the formation of secondary synaptic clefts during ontogenesis.

关键词：细胞支架蛋白质类/缺乏细胞支架蛋白质类/代谢 DNA突变分析基因缺失膜蛋白质类/缺乏膜蛋白质类/代谢运动神经肌肉终板/生理学运动神经肌肉终板/超微结构肌无力综合征先天性/遗传学肌无力综合征先天性/代谢肌无力综合征先天性/病理学系谱受体胆碱能/遗传学肌营养不良蛋白相关蛋白质成年人女(雌)性人类男(雄)性

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The dynamics of dystroglycan

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NATURE GENETICS 1999年第3期23卷 256-258页

作者： Chamberlain, J Univ Michigan Sch Med Dept Human Genet Ann Arbor MI 48109 USA

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