RUMPSHAKER - AN X-LINKED MUTATION AFFECTING CNS MYELINATION - A STUDY OF THE FEMALE HETEROZYGOTE
RUMPSHAKER - AN X-LINKED MUTATION AFFECTING CNS MYELINATION - A STUDY OF THE FEMALE HETEROZYGOTE
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DOI：
10.1111/j.1365-2990.1991.tb00729.x
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发表时间：
1991-08-01
影响因子：
5
通讯作者：
KENNEDY, PGE
中科院分区：
文献类型：
--
作者：
FANARRAGA, ML;GRIFFITHS, IR;KENNEDY, PGE
这项研究检查了雌性小鼠 rumpshaker (rsh) 杂合子的脊髓和视神经中发现的髓磷脂缺陷，rsh 是一种导致髓鞘形成低下的 X 连锁突变。 没有检测到临床异常，但形态学变化很明显，特别是在脊髓中，没有证据表明这种变化会随着年龄的增长而消失。 在脊髓中，散在的低髓鞘轴突是主要特征，偶尔三两成群。与正常雄性同窝小鼠相比，所有年龄段的少突胶质细胞数量均略有升高，并且髓磷脂总量减少。 通过髓磷脂碱性蛋白（MBP）和PLP/DM-20分子的两个肽区域的免疫染色检查鞘的髓磷脂蛋白组成；一种是蛋白脂质蛋白 (PLP) 特异性的，另一种识别 PLP-DM-20 共有的 c 端。 大多数髓鞘对 MBP 和 PLP 进行免疫染色。 偶尔 MBP 阳性鞘不能用 PLP/DM-20 或 PLP 特异性抗血清染色。 因此，杂合子中至少存在两种类型的免疫细胞化学定义的髓鞘。 视神经的变化不太明显。神经胶质细胞数量增加，但未检测到薄髓鞘轴突，尽管与正常同窝小鼠相比，髓磷脂总量减少。 在任何情况下均未检测到马赛克、髓鞘化/髓鞘化程度低下的斑块。 因此，rsh 杂合子与其他 X 连锁髓磷脂突变（如 jimpy 小鼠和髓磷脂缺陷大鼠）的杂合子有很大不同，无论是在病变的严重程度还是随着年龄的增长而无法恢复方面。
This study examines the myelin deficits found in the spinal cord and optic nerves of female mice heterozygotes for rumpshaker (rsh), an X-linked mutation causing hypomyelination. No clinical abnormalities were detected but morphological changes were evident, particularly in the spinal cord, which showed no evidence of resolving with age. In the spinal cord, scattered hypomyelinated axons, occasionally grouped in twos or threes, were the major feature; oligodendrocyte numbers were slightly elevated at all ages compared to normal male littermates and the total amount of myelin was reduced. Myelin protein composition of the sheaths was examined by immunostaining for myelin basic protein (MBP) and two peptide regions of PLP/DM-20 molecule; one being proteolipid protein (PLP)-specific and the other recognizing the c-terminal common to PLP-DM-20. The majority of myelin sheaths immunostained for MBP and PLP. Occasional MBP-positive sheaths failed to stain with PLP/DM-20 or PLP-specific antiserum. Therefore, at least two types of immunocytochemically-defined myelin sheaths are present in the heterozygotes. Changes in the optic nerves were much less obvious; glial cell numbers were increased but thinly myelinated axons were not detected although the total amount of myelin was reduced compared to normal littermates. In no instance were mosaic, amyelinated/hypomyelinated patches detected. Heterozygotes for rsh, therefore, are considerably different from those for other X-linked myelin mutations like the jimpy mouse and the myelin-deficient rat, both in regard to the severity of the lesions and their failure to recover with age.