Alzheimer's disease and endocytic dysfunction: Clues from the Down syndrome-related proteins, DSCR1 and ITSN1
Alzheimer's disease and endocytic dysfunction: Clues from the Down syndrome-related proteins, DSCR1 and ITSN1
Down syndrome (DS) is a genetically-based disorder which results in multiple conditions for sufferers. Amongst these is a common early incidence of Alzheimer's disease (AD) which usually affects DS individuals by their mid 40s. This fact provides a clue that one or more of the genes located on chromosome 21 may be involved in the onset of AD. Current evidence suggests that endosomal disorders may underlie the earliest pathology of AD, preceding the classical pathological markers of beta-amyloid plaque deposition and neurofibrillary tangles. Therefore, any genes involved in endocytosis and vesicle trafficking which are over-expressed in DS are novel candidates in the pathogenesis of AD. Intersectin-1 (ITSN1) and Down syndrome candidate region 1 (DSCR1) are two such genes. Extensive in vitro data and data from Drosophila indicates that the over-expression of either of these genes or their products results in inhibition or ablation of endocytosis in neuronal as well as non-neuronal cells. This review discusses in detail the known and potential roles of ITSN1 and DSCR1 in DS, AD, endocytosis and vesicle trafficking.
- Monash University Australia
- Flinders University Australia
- Hudson Institute of Medical Research Australia
- Prince Henry's Institute of Medical Research Australia
- Monash Institute of Medical Research Australia
Intracellular Signaling Peptides and Proteins, Muscle Proteins, 1103 Clinical Sciences, Alzheimer's disease, 110306 Endocrinology, 0601 Biochemistry and Cell Biology, Endocytosis, DNA-Binding Proteins, Adaptor Proteins, Vesicular Transport, Alzheimer Disease, Animals, Humans, DSCR1, 110201 Cardiology (incl. Cardiovascular Diseases), Down Syndrome, 1109 Neurosciences, 111201 Cancer Cell Biology
Intracellular Signaling Peptides and Proteins, Muscle Proteins, 1103 Clinical Sciences, Alzheimer's disease, 110306 Endocrinology, 0601 Biochemistry and Cell Biology, Endocytosis, DNA-Binding Proteins, Adaptor Proteins, Vesicular Transport, Alzheimer Disease, Animals, Humans, DSCR1, 110201 Cardiology (incl. Cardiovascular Diseases), Down Syndrome, 1109 Neurosciences, 111201 Cancer Cell Biology
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