Rowan S A, Lake B D
Department of Histopathology, Institute of Child Health, London, United Kingdom.
Am J Med Genet. 1995 Jun 5;57(2):172-6. doi: 10.1002/ajmg.1320570213.
The major protein component of the storage bodies in the late infantile (LIB) and juvenile (JB) forms of Batten diseases is subunit c of ATP synthase (subunit c). Ultrastructurally the stored material may appear as curvilinear bodies, fingerprint profiles, or a mixture of both, dependent upon the form of Batten disease and the cell type. The mnd/mnd mouse, an animal model for Batten disease, also stores subunit c and has loosely stacked lamellae within the neurons of the brain and in other cells and tissues. Using a range of tissue samples, immunolocalization, using avidin-biotin techniques at the LM level and postembedding immunogold-labelling (5 nm) with silver enhancement at the EM level, were used to investigate specific subunit c immunoreactivity. Subunit c storage was displayed in a number of cells, including neurons, muscle cells, adipocytes, macrophages, endothelial and some epithelial cells, and exocrine and endocrine cells. By EM, subunit c was localized to all curvilinear-type storage bodies, but to nowhere else within the cell. It was not present over fingerprint profiles, the characteristic storage pattern of neurons within the JB gut, possibly due to steric factors. Preliminary studies in the mnd mouse showed subunit c immunoreactivity localized to storage profiles seen ultrastructurally in neurons of the brain, and liver and heart cells. We suggest that accumulation and distribution of subunit c within a variety of cell types, and its consistent absence in others, may be related to the particular cell type's longevity and its metabolic demand.
巴顿病晚期婴儿型（LIB）和青少年型（JB）中储存体的主要蛋白质成分是ATP合酶的c亚基（亚基c）。在超微结构上，储存物质可能呈现为曲线体、指纹样结构或两者的混合，这取决于巴顿病的类型和细胞类型。mnd/mnd小鼠是巴顿病的动物模型，也储存亚基c，并且在脑神经元以及其他细胞和组织中具有松散堆叠的薄片。使用一系列组织样本，采用抗生物素蛋白-生物素技术在光镜水平进行免疫定位，并在电镜水平采用包埋后免疫金标记（5纳米）并进行银增强，以研究亚基c的特异性免疫反应性。亚基c储存在许多细胞中，包括神经元、肌肉细胞、脂肪细胞、巨噬细胞、内皮细胞和一些上皮细胞，以及外分泌和内分泌细胞。通过电镜观察，亚基c定位于所有曲线型储存体，但在细胞内的其他地方未发现。它不存在于指纹样结构上，这是JB型肠道内神经元的特征性储存模式，可能是由于空间因素。对mnd小鼠的初步研究表明，亚基c免疫反应性定位于在脑神经元以及肝脏和心脏细胞的超微结构中所见的储存结构上。我们认为，亚基c在多种细胞类型中的积累和分布，以及在其他细胞类型中始终不存在，可能与特定细胞类型的寿命及其代谢需求有关。
