Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis).
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.
Hall
N A
NA
Institute of Neurology, London, UK.
Lake
B D
BD
Patrick
A D
AD
D000328:Adult; D000375:Aging / Q000378:metabolism; D000818:Animals; D004288:Dolichol Phosphates / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D015994:Incidence; D007223:Infant; D015227:Lipid Peroxidation; D008055:Lipids; D008247:Lysosomes / Q000378:metabolism; D008954:Models, Biological; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D010860:Pigments, Biological / Q000378:metabolism; D006180:Proton-Translocating ATPases / Q000378:metabolism; D012756:Sheep / Q000235:genetics / Q000378:metabolism; D012757:Sheep Diseases / Q000235:genetics / Q000378:metabolism
D004288:Dolichol Phosphates; D008055:Lipids; D010860:Pigments, Biological; C051596:lipopigments; C026406:dolichol pyrophosphate; D006180:Proton-Translocating ATPases