Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

• Published in: Human molecular genetics Vol. 21; no. 14; pp. 3156 - 3172
• Main Authors: Cossec, Jack-Christophe, Lavaur, Jérémie, Berman, Diego E., Rivals, Isabelle, Hoischen, Alexander, Stora, Samantha, Ripoll, Clémentine, Mircher, Clotilde, Grattau, Yann, OlivoMarin, Jean-Christophe, de Chaumont, Fabrice, Lecourtois, Magalie, Antonarakis, Stylianos E., Veltman, Joris A., Delabar, Jean M., Duyckaerts, Charles, Di Paolo, Gilbert, Potier, Marie-Claude
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.07.2012; Oxford University Press (OUP)
• Subjects: Age; Alzheimer's disease; Amyloid precursor protein; Animals; Biological and medical sciences; Cell Line; chromosome 21; Chromosome aberrations; Chromosome Mapping; Chromosomes, Human, Pair 21 - enzymology; Chromosomes, Human, Pair 21 - genetics; Confocal microscopy; Down Syndrome - enzymology; Down Syndrome - genetics; Down's syndrome; Endocytosis; endosomes; Endosomes - chemistry; Endosomes - metabolism; Fibroblasts; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Humans; Immunofluorescence; Leukocytes (mononuclear); Life Sciences; Lymphoblastoid cell lines; Medical genetics; Medical sciences; Mice; Mice, Transgenic; Molecular and cellular biology; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Neuroblastoma cells; Neurodegenerative diseases; Neurons and Cognition; phosphoinositides; Phospholipids; Phosphoric Monoester Hydrolases - genetics; Phosphoric Monoester Hydrolases - metabolism; RNA-mediated interference; Transgenic mice; Trisomy; Chromosomal aberration; Trisomy; Chromosome G21; Aneuploidy; Genetics; Early; Down syndrome; Endosome; endosomes; fibroblasts; down syndrome; trisomy; protein overexpression; neurons

Enlarged early endosomes have been observed in neurons and fibroblasts in Down syndrome (DS). These endosome abnormalities have been implicated in the early development of Alzheimer's disease (AD) pathology in these subjects. Here, we show the presence of enlarged endosomes in blood mononuclear...