Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
|  
|  
| --over
|  
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in extraskeletal myxoid chondrosarcoma and chordoma | constitutional
|  
|  
|  
| loss of function
|
forming tangles of paired helical filaments (PHF) consisting of hyperphosphorylated tau protein in Alzheimer disease | constitutional
|  
| insertion
|  
|  
|
inclusion of exon 6c decreases in DM1 (myotonic dystrophy 1) brains compared to control brains whereas inclusion of 6d increases | constitutional
|  
|  
|  
| gain of function
|
and KLC1 axonal transport defects can initiate neurodegeneration and/or exacerbate human tau-dependent disease pathways in AD and other neurodegenerative tauopathies | constitutional
|  
|  
| --other
|  
|
splicing misregulation of adult-specific exon 10, which codes for a microtubule binding domain, results in expression of abnormal ratios of tau isoforms, leading to FTDP17  | constitutional
|  
|  
| --other
|  
|
loss of axonal mitochondria may play an important role in tau phosphorylation and toxicity in the pathogenesis of AD  | constitutional
|  
|  
| --over
|  
|
increased levels of neuronal MAPT are an important factor in the progression of tauopathy, and ER stress-induced increase in total MAPT protein is due to a delay in its degradation  | |
Variant & Polymorphism
SNP
, other
| over-representation of the soluble four repeats tau isoforms which may need a genetic defect in tau and a mitochondrial defect either genetic or toxic leading to tau aggregation |
|
SNP H1 preferentially associated with Parkinson disease and H1C with Alzheimer disease |
|
SNP 14 and 21 increasing the risk of progressive supranuclear palsy and corticobasal degeneration |
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genotypes at SNP9 interact with SNP6 genotypes to increase risk of amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam |
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H1 haplotype increased in neurodegenerative disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and Parkinson's disease (PD)  |
|
H2 haplotype has been found to be related to familial FTD |
|
; H1 haplotype is associated with a particular cerebral morphology that may increase the susceptibility of the healthy carriers to develop neurodegenerative diseases such as sporadic tauopathies  |
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