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一只猫患有β-肌聚糖减少的肌肉萎缩症。

Muscular dystrophy with reduced beta-sarcoglycan in a cat.

作者信息

Salvadori C, Vattemi G, Lombardo R, Marini M, Cantile C, Shelton G D

机构信息

Department of Animal Pathology, University of Pisa, Viale delle Piagge 2, Pisa.

出版信息

J Comp Pathol. 2009 May;140(4):278-82. doi: 10.1016/j.jcpa.2008.12.003. Epub 2009 Feb 8.

Abstract

A partial beta-sarcoglycan (SG) deficiency with retention of other components of the SG complex (SGC) is described in 6-month-old, intact male domestic shorthaired kitten that was referred for evaluation of weakness, reluctance to move and dyspnoea. Neurological deficits were restricted to the neuromuscular system. Muscle biopsy revealed moderate variability in myofibre size, with numerous atrophic rounded fibres, rare myofibre necrosis, regeneration and moderate perimysial and endomysial fibrosis. Immunohistochemistry revealed decreased expression of beta- and gamma-SG and western blotting revealed markedly decreased beta-SG with normal expression of alpha-, gamma- and delta-SG, caveolin-3 and calpain-3. Sarcoglycanopathy has not previously been described in cats. In human and canine sarcoglycanopathies the deficiency in any one of the SGs leads to secondary deficiency of the entire SGC. Such spontaneously arising muscular disease in animals can provide valuable models for equivalent human disorders.

摘要

一只6月龄未绝育的雄性家养短毛小猫因虚弱、不愿活动和呼吸困难前来接受评估,其被诊断为部分β-肌聚糖(SG)缺乏,而SG复合物(SGC)的其他成分保留。神经功能缺损仅限于神经肌肉系统。肌肉活检显示肌纤维大小存在中度差异,有许多萎缩的圆形纤维,罕见肌纤维坏死、再生以及中度的肌束膜和肌内膜纤维化。免疫组化显示β-和γ-SG表达降低,蛋白质印迹显示β-SG明显减少,而α-、γ-和δ-SG、小窝蛋白-3和钙蛋白酶-3表达正常。此前猫中尚未描述过肌聚糖病。在人类和犬类肌聚糖病中,任何一种SG缺乏都会导致整个SGC继发性缺乏。这种动物中自发出现的肌肉疾病可为人类相应疾病提供有价值的模型。

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