Limits...
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction

View Article: PubMed Central - PubMed

ABSTRACT

Mutations in MAPT cause a variety of neurodegenerative disorders. Lopez et al. confirm that A152T-variant tau is associated with increased risk for frontotemporal dementia and progressive supranuclear palsy syndrome. Upregulation of autophagy increases tau clearance and ameliorates pathology in zebrafish expressing A152T-tau, suggesting potential for the treatment of tauopathies.

No MeSH data available.


Related in: MedlinePlus

MAPT p.A152T carrier frequencies and associated odds ratio for the different disease cohorts. The total number of individuals and p.A152T carriers for each of the disease cohorts and controls is shown in the table (left), with odds ratios and nominal P-values depicted in the forest plot (right). Overall refers to the combined neurological disease patient samples. In the forest plot, squares represent the estimate odds ratio and are drawn proportional to the weight of the sample and lines represent 95% confidence intervals.
© Copyright Policy - cc-by
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC5382950&req=5

awx005-F1: MAPT p.A152T carrier frequencies and associated odds ratio for the different disease cohorts. The total number of individuals and p.A152T carriers for each of the disease cohorts and controls is shown in the table (left), with odds ratios and nominal P-values depicted in the forest plot (right). Overall refers to the combined neurological disease patient samples. In the forest plot, squares represent the estimate odds ratio and are drawn proportional to the weight of the sample and lines represent 95% confidence intervals.

Mentions: Among 3100 patients with neurodegenerative disease, we identified 23 p.A152T carriers (Fig. 1): one carrier in 133 cases with corticobasal syndrome (0.75%); two carriers in 462 cases with mild cognitive impairment (0.43%); five carriers in 927 cases with Alzheimer’s disease (0.54%); seven carriers in 913 FTD cases (0.77%); and eight in 435 cases with PSP-S (1.84%). No carrier was identified among our cohorts of amyotrophic lateral sclerosis (n = 24) and Parkinson’s disease (n = 206) individuals. Ten in 4351 control individuals carried the p.A152T allele (0.23%). This frequency is similar to the one observed in over 60 000 unrelated individuals from the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/), with 159 carriers (three of them homozygous) among 60 472 individuals (0.26%). Demographic characteristics of this replication cohort are described in Supplementary Table 1.Figure 1


A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction
MAPT p.A152T carrier frequencies and associated odds ratio for the different disease cohorts. The total number of individuals and p.A152T carriers for each of the disease cohorts and controls is shown in the table (left), with odds ratios and nominal P-values depicted in the forest plot (right). Overall refers to the combined neurological disease patient samples. In the forest plot, squares represent the estimate odds ratio and are drawn proportional to the weight of the sample and lines represent 95% confidence intervals.
© Copyright Policy - cc-by
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5382950&req=5

awx005-F1: MAPT p.A152T carrier frequencies and associated odds ratio for the different disease cohorts. The total number of individuals and p.A152T carriers for each of the disease cohorts and controls is shown in the table (left), with odds ratios and nominal P-values depicted in the forest plot (right). Overall refers to the combined neurological disease patient samples. In the forest plot, squares represent the estimate odds ratio and are drawn proportional to the weight of the sample and lines represent 95% confidence intervals.
Mentions: Among 3100 patients with neurodegenerative disease, we identified 23 p.A152T carriers (Fig. 1): one carrier in 133 cases with corticobasal syndrome (0.75%); two carriers in 462 cases with mild cognitive impairment (0.43%); five carriers in 927 cases with Alzheimer’s disease (0.54%); seven carriers in 913 FTD cases (0.77%); and eight in 435 cases with PSP-S (1.84%). No carrier was identified among our cohorts of amyotrophic lateral sclerosis (n = 24) and Parkinson’s disease (n = 206) individuals. Ten in 4351 control individuals carried the p.A152T allele (0.23%). This frequency is similar to the one observed in over 60 000 unrelated individuals from the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/), with 159 carriers (three of them homozygous) among 60 472 individuals (0.26%). Demographic characteristics of this replication cohort are described in Supplementary Table 1.Figure 1

View Article: PubMed Central - PubMed

ABSTRACT

Mutations in MAPT cause a variety of neurodegenerative disorders. Lopez et al. confirm that A152T-variant tau is associated with increased risk for frontotemporal dementia and progressive supranuclear palsy syndrome. Upregulation of autophagy increases tau clearance and ameliorates pathology in zebrafish expressing A152T-tau, suggesting potential for the treatment of tauopathies.

No MeSH data available.


Related in: MedlinePlus