Hall N A, Lake B D, Patrick A D
Institute of Neurology, London, UK.
Dev Neurosci. 1991;13(4-5):339-44. doi: 10.1159/000112183.
Protein is the major component of the intra-lysosomal storage material which characteristically accumulates in Batten's disease. In the late-infantile, juvenile and adult forms of the disease, and in a form affecting sheep, this protein is principally composed of a single polypeptide, subunit c of mitochondrial ATP synthase. Subunit c is not stored in the infantile form of Batten's disease, supporting recent genetic data which suggest this is a distinct disease. Nor is subunit c found in storage material within other lysosomal storage diseases or in lipofuscin of old age. Subunit c storage, therefore, is specific for the later-onset forms of Batten's disease and indeed may be central to their aetiology.
蛋白质是溶酶体内储存物质的主要成分，这种物质在巴滕病中会典型性地蓄积。在晚发性婴儿型、青少年型和成人型巴滕病以及一种影响绵羊的疾病形式中，这种蛋白质主要由单一多肽——线粒体ATP合酶的亚基c组成。亚基c不会在婴儿型巴滕病中储存，这支持了近期的遗传学数据，这些数据表明这是一种不同的疾病。在其他溶酶体贮积病的储存物质中或老年的脂褐质中也未发现亚基c。因此，亚基c的储存是晚发性巴滕病所特有的，实际上可能是其病因的核心。
