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伴有肌营养不良蛋白缺乏的猫肌肉萎缩症

Feline muscular dystrophy with dystrophin deficiency.

作者信息

Carpenter J L, Hoffman E P, Romanul F C, Kunkel L M, Rosales R K, Ma N S, Dasbach J J, Rae J F, Moore F M, McAfee M B

机构信息

Department of Pathology, MSPCA/Angell Memorial Animal Hospital, Boston 02130.

出版信息

Am J Pathol. 1989 Nov;135(5):909-19.

PMID:2683799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1880103/
Abstract

This is the first description of a dystrophin-deficient muscular dystrophy in domestic cats. The disorder appears to be of X-linked inheritance because it affected both males of a litter of four kittens. Immunoblotting and immunofluorescent detection of dystrophin showed dystrophin present in control cat muscle but no detectable dystrophin in either affected cat. The feline muscular dystrophy was progressive and histopathologically resembled human Duchenne/Becker muscular dystrophy except for the lack of fat infiltration and the presence of prominent hypertrophy of both muscle fibers and muscles groups in the feline disorder.

摘要

这是对家猫中一种肌营养不良蛋白缺乏型肌肉萎缩症的首次描述。这种疾病似乎是X连锁遗传,因为一窝四只小猫中的两只雄性都受到了影响。对肌营养不良蛋白进行免疫印迹和免疫荧光检测显示,对照猫的肌肉中存在肌营养不良蛋白,但两只患病猫中均未检测到肌营养不良蛋白。猫的肌肉萎缩症呈进行性发展,组织病理学上类似于人类的杜兴氏/贝克氏肌肉萎缩症,只是猫的疾病中缺乏脂肪浸润,且肌肉纤维和肌肉群有明显的肥大现象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/cb813747df99/amjpathol00119-0145-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/b8f079774482/amjpathol00119-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/871ec012a82f/amjpathol00119-0140-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/4449fec3e985/amjpathol00119-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/b03bbdf20772/amjpathol00119-0141-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/4806235f80f7/amjpathol00119-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/ae5eae8b1792/amjpathol00119-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/10ad586cdeda/amjpathol00119-0143-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/fbcb43040dd2/amjpathol00119-0144-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/cb813747df99/amjpathol00119-0145-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/b8f079774482/amjpathol00119-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/871ec012a82f/amjpathol00119-0140-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/4449fec3e985/amjpathol00119-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/b03bbdf20772/amjpathol00119-0141-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/4806235f80f7/amjpathol00119-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/ae5eae8b1792/amjpathol00119-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/10ad586cdeda/amjpathol00119-0143-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/fbcb43040dd2/amjpathol00119-0144-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b3/1880103/cb813747df99/amjpathol00119-0145-a.jpg

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2
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本文引用的文献

1
An air-drying technique for flattening chromosomes in mammalian oells grown in vitro.一种用于体外培养的哺乳动物细胞中染色体压片的空气干燥技术。
Stain Technol. 1958 Mar;33(2):73-7. doi: 10.3109/10520295809111827.
2
Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging.通过放射性核素成像研究杜氏肌营养不良症患者局部心肌代谢、灌注及壁运动的改变。
Circulation. 1984 Jan;69(1):33-42. doi: 10.1161/01.cir.69.1.33.
3
X chromosome-linked muscular dystrophy (mdx) in the mouse.
经基因编辑的微型猪模型中出现的严重心脏和骨骼表现:杜氏肌营养不良症的先进替代模型
Commun Biol. 2024 May 3;7(1):523. doi: 10.1038/s42003-024-06222-5.
4
Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X-linked muscular dystrophy with a mild clinical course.一种新型肌营养不良蛋白(DMD)基因突变导致的猫 X 连锁肌营养不良症与轻度临床病程相关。
J Vet Intern Med. 2024 Mar-Apr;38(2):1160-1166. doi: 10.1111/jvim.17024. Epub 2024 Feb 28.
5
Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat.全基因组测序的精准医学在一只猫中鉴定出一种新型 X 连锁肌营养不良症的肌营养不良蛋白(DMD)变异体。
J Vet Intern Med. 2024 Jan-Feb;38(1):135-144. doi: 10.1111/jvim.16971. Epub 2024 Jan 5.
6
Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective.mdx 小鼠表型的人源化用于杜氏肌营养不良症建模:代谢角度。
J Neuromuscul Dis. 2023;10(6):1003-1012. doi: 10.3233/JND-230126.
7
Dystrophin () Missense Variant in Cats with Becker-Type Muscular Dystrophy.猫的贝克型肌营养不良症中的抗肌萎缩蛋白()错义变异体。
Int J Mol Sci. 2023 Feb 6;24(4):3192. doi: 10.3390/ijms24043192.
8
Myopathy with oval inclusions in a domestic shorthair cat.一只家养短毛猫患伴有椭圆形包涵体的肌病。
JFMS Open Rep. 2022 Mar 25;8(1):20551169221081418. doi: 10.1177/20551169221081418. eCollection 2022 Jan-Jun.
9
Animal models for researching approaches to therapy of Duchenne muscular dystrophy.用于研究杜氏肌营养不良症治疗方法的动物模型。
Transgenic Res. 2021 Dec;30(6):709-725. doi: 10.1007/s11248-021-00278-3. Epub 2021 Aug 18.
10
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小鼠X染色体连锁型肌营养不良症(mdx)
Proc Natl Acad Sci U S A. 1984 Feb;81(4):1189-92. doi: 10.1073/pnas.81.4.1189.
4
Banding in human chromosomes treated with trypsin.用胰蛋白酶处理的人类染色体中的显带
Nat New Biol. 1972 Jan 12;235(54):52-4. doi: 10.1038/newbio235052a0.
5
Slow and fast myosin heavy chain content defines three types of myotubes in early muscle cell cultures.慢肌球蛋白重链和快肌球蛋白重链的含量决定了早期肌肉细胞培养物中的三种肌管类型。
J Cell Biol. 1985 Nov;101(5 Pt 1):1643-50. doi: 10.1083/jcb.101.5.1643.
6
Progressive muscular dystrophy in a golden retriever dog: light microscope and ultrastructural features at 4 and 8 months.一只金毛猎犬的进行性肌肉营养不良:4个月和8个月时的光学显微镜及超微结构特征
Acta Neuropathol. 1986;71(3-4):301-10. doi: 10.1007/BF00688053.
7
Conservation of the Duchenne muscular dystrophy gene in mice and humans.杜兴氏肌肉营养不良基因在小鼠和人类中的保守性。
Science. 1987 Oct 16;238(4825):347-50. doi: 10.1126/science.3659917.
8
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.杜兴氏肌营养不良症(DMD)cDNA的完整克隆以及正常个体和患病个体中DMD基因的初步基因组结构
Cell. 1987 Jul 31;50(3):509-17. doi: 10.1016/0092-8674(87)90504-6.
9
The mutant mdx: inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates.突变型mdx小鼠:遗传性肌病。神经、肌肉和终板的形态学研究。
Brain. 1987 Apr;110 ( Pt 2):269-99. doi: 10.1093/brain/110.2.269.
10
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.肌营养不良蛋白:杜氏肌营养不良基因座的蛋白质产物。
Cell. 1987 Dec 24;51(6):919-28. doi: 10.1016/0092-8674(87)90579-4.