We noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
Printable Handouts
Navigable Slide Index
- Intro slide
- The usefulness of genetics
- Pathology of diseases
- The beginning of AD research
- The first breakthrough in genetics of AD
- Sequencing families with autosomal AD
- Finding mutations that cause AD
- Amyloid protein precursor
- Effect of mutations on amyloid metabolism
- Alpha and beta pathway of metabolism
- APP 717 and 692 mutations
- The amyloid cascade hypothesis
- Evidence for susceptibility loci on chromosome 14
- FAD locus genetic maps on chromosome 14
- Cloning of a gene bearing missense mutations
- Structure of the presenilin protein - PS1
- A familial AD locus on chromosome 1
- Mutations in PS2
- Mutations in PS line up along helices
- PS1 with the mutations in TM2, TM3 and TM4
- Effect of the mutations
- Is late onset AD caused by related mechanisms?
- Relationship between APP and PS1
- Transgenic models of amyloid deposition
- Presenilin accelerates amyloid pathology
- Tau diseases linked to chromosome 17
- Families with linkage to the FTDP-17 locus
- Taupathologies in families with FTDP
- The microtubule associated protein tau
- Tau is a candidate gene for chromosome 17 FD
- Tau exon 10 3' splice site mutations
- FTDP-17-missense and splicing mutations in tau
- Mice with tangles
- Neurofibrillary tangles formation in transgenic mice
- Gallyas stain
- AD/FTDP-17-pathways to neurodegeneration
- Synuclein
- Alzheimer's diseases
Topics Covered
- Usefulness of genetics in understanding AD
- Pathology of diseases
- Amyloid protein
- Genetic maps
- Mechanism of late onset Alzheimer's
- Role of presenilin in amyloid pathology
- Tau and frontotemporal dementia
- Tau splice site mutations
- Pathways to neurodegeneration
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Hardy, J. (2021, March 8). A molecular understanding of Alzheimer's disease [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 6, 2024, from https://doi.org/10.69645/PCEF3016.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. John Hardy, Consultant: Eisai Speaker's Bureau: Eli Lily Grant/Research Support (Principal Investiqator): MRC/Wellcome Trust
Update Available
The speaker addresses developments since the publication of the original talk. We recommend listening to the associated update as well as the lecture.
- Full lecture Duration: 42:00 min
- Update Interview Duration: 20:43 min
A molecular understanding of Alzheimer's disease
A selection of talks on Neurology
Transcript
Please wait while the transcript is being prepared...
0:00
In today's talk, I'm going to discuss how molecular genetics has led us
close to an understanding of the mechanism by which Alzheimer's disease starts.
What I'm going to talk about mostly is about the analysis of families with
autosomal dominant disease and how they have given
us an insight into the disease mechanism in general.
0:21
The nice thing about genetics is that it allows you to put order into pathology,
the neuropathology of Alzheimer's disease and other diseases for that matter,
tells you how the end stage of the disease,
you see the results of the disease process,
but you can't see how it starts.
The good thing about genetics is it allows you to see exactly how the disease starts.
You see the mutant molecule which initiates the disease process.
And so genetics is complementary to neuropathology,
and so by studying both the genetics and the pathology of the disease,
you see the start and the finish of the process.
But the other thing about genetics,
which makes it particularly powerful is that it gives you a way of modelling the disease.
You can take the model,
the mutant gene that you discover,
and put that mutant gene into mice,
for example, and start to try and model the pathology of the disease in mice.
If you're successful, you'll be able to study the process of
the disease pathogenesis in a way that you can't do in humans.
It allows you to model the disease.
Of course, the other thing it allows you to do is
identify people who are going to get sick
of course, if you have ethical committee permission to do this.
You can look at individuals who are
mutation carriers and try and understand the earlier symptoms of the disease and so
refine the diagnostic categorization of disease make an earlier and better diagnosis.
So genetics is a very powerful tool both to study etiology and
pathogenesis and also to allow people to get better making earlier diagnosis.
Now, of course, the disease I'm going to talk about mostly is Alzheimer's disease.