Lysosomal proteinosis based on decreased degradation of a specific protein, mitochondrial ATP synthase subunit C: Batten disease.

Abstract

Lysosomal storage diseases are a group of more than 35 genetically determined heterogenous metabolic disorders. Biochemically, they are characterized by deficient activity of specific lysosomal hydrolases and intralysosomal accumulation of one or more substrates in affected cells. They are often categorized according to the chemical nature of the most prominent storage compounds. They include lipid storage diseases, glycogen storage diseases, mucopolysaccharidoses, mucolipidoses and gangliosidoses. However, there are no reports of protein storage diseases (proteinoses) based on deficiency of specific lysosomal proteases. Experimentally, inhibition of lysosomal cysteine proteinases by administration of leupeptin and E-64 causes intralysosomal storage of cytoplasmic proteins in cells (1).KeywordsMitochondrial ProteinMitochondrial FractionGlycogen Storage DiseaseLysosomal Storage DiseaseNeuronal Ceroid LipofuscinosisThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.