| Inferred Change in Presenilin-1(PSEN-1)expression and itsproduct |
The interactive genes |
Sub-cellular processes/Molecular pathways |
Probable Damaging effect |
| The mutation might alter the splicing pattern of the transcript; in downstream it alters the protein domain structure due to change in amino acid sequence as the whole exon may be skipped by splicing. |
APP (Amyloid Precursor Protein) |
Involved in the amyloid plaque production in brain. |
Gamma secretase activity of PSEN-1 may be changed, altering amyloid beta production. |
| Caspases |
Involved in the proteolytic processing of PSEN-1. |
Metabolism of PSEN-1 via proteolytic processing may be altered. |
PKC
(Phospho kinase C) |
Inhibits the caspase cleavage of PSEN-1 by phosphorylating at amino acid residue 346. |
Proteolytic processing of PSEN-1 and progression of apoptosis may be altered. |
CTNNB1
(Beta catenin) |
Involved in regulation of apoptosis via cell signaling. |
Neuronal apoptosis may be modulated. |
CTNND2
(Delta catenin) |
Critical protein for maintenance of neuronal structure and function. |
Neuronal apoptosis may be modulated. |
CDH2
(Cadherin) |
The cadherin-catenin-presenilin-1 complex triggers synaptic loss and make neurones vulnerable to apoptosis. |
Neuronal apoptosis may be modulated. |
| MTCH1 (Mitochondrial carrier homolog 1) |
Its over-expression is responsible for mitochondrial depolarization and apoptosis. |
Apoptosis may be altered. |
| NOTCH-1 |
PSEN-1-Notch1 interaction is necessary for neurogenesis. |
Neurogenesis may be impaired. |
