犬退行性脊髓病的发病机制、目前诊断的可能性和基因检测对育种的影响

K. Fiszdon, J. Gruszczyńska, K. Siewruk
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引用次数: 0

摘要

犬退行性脊髓病(CDM)是一种无法治愈的、慢性的、缓慢进行的犬脊髓自身免疫性疾病,影响中大型犬。病因尚不清楚,但最新数据显示,超氧化物歧化酶1基因(SOD1)的突变已知会导致人类肌萎缩侧索硬化症(ALS)。这就是为什么CDM是ALS的犬模型。脊髓功能障碍(共济失调、痉挛性麻痹、截瘫)的最初临床症状通常被误认为是其他常见问题(髋关节发育不良或椎间盘疾病)。尸检诊断需要排除所有病例,但CDM的最终确认需要对脊髓组织进行病理检查。目前还没有可用的治疗方法,但新的治疗方法很有希望。DNA测试是一种商业上可用的工具,可以帮助育种者避免产生CDM“风险”后代,从而显著降低后代突变等位基因的频率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
CANINE DEGENERATIVE MYELOPATHY – PATHOGENESIS, CURRENT DIAGNOSTICS POSSIBILITIES AND BREEDING IMPLICATIONS REGARDING GENETIC TESTING
Canine Degenerative Myelopathy (CDM) is an incurable, chronic, slow progressive, autoimmune disease of the canine spinal cord affecting older dogs, medium to large breeds. Etiopathogenesis is still unknown but the latest data show that mutation of superoxide dismutase 1 gene (SOD1) is known to cause amyotrophic lateral sclerosis (ALS) in humans. That is why CDM is a canine model of ALS. The initial clinical sings of spinal cord dysfunction (ataxia, spastic paresis, paraplegia) are commonly mistaken with other common problems (hip dysplasia or intervertebral disc disease). The antemortem diagnosis requires exclusion of them all but definitive confirmation of CDM requires pathologic examination of spinal cord tissue. There is no treatment available but novel therapies are promising. The DNA test is a commercially available tool to help breeders avoid producing CDM “at risk” offspring what significantly reduces the frequency of mutated alleles in future generations.
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