schwartzek
Last updated: Thu Apr 30 20:00:03 PDT 2009 Fri May 1 03:00:03 UTC 2009
Date of last work unit
2009-04-22 08:18:42
Total score
3273
Overall rank (if points are combined)
415297 of 1229041
Active processors (within 50 days)
2
Active processors (within 7 days)
0
Contributions by team and project:
Donator
schwartzek
Team
Default (includes all those WU returned without valid team number) (0)
Score
3273 (certificate)
Donator Rank
415297 of 1229041
WU
10 (certificate)
Date of lastwork unit
2009-04-22 08:18:42
Active processors(within 50 days)
2
Active processors(within 7 days)
0
Thursday, April 30, 2009
Tuesday, April 21, 2009
Heritability in Alzheimers.
Since Alzheimer's is a quanitative trait, it has both genetic and environmental components. Heritability of Alzheimer's is estimated to be about .74 according to Gatz, et. al. This article can be found at http://biomed.gerontologyjournals.org/cgi/content/abstract/52/2/M117. The other .26 is due to environmental influences.
Alzheimer's doesn't develop until after reproductive stage, therefore there is no influence of selection.
Inbreeding would dicrease genetic variation and heterozygosity, therefore increasing the occurance of this trait.
Alzheimer's doesn't develop until after reproductive stage, therefore there is no influence of selection.
Inbreeding would dicrease genetic variation and heterozygosity, therefore increasing the occurance of this trait.
Thursday, March 26, 2009
Questions – Case Study on FFI - http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/AAkroush.html
Further reading: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600072
1. Based on your research into Alzheimer’s disease and your interview, how are these two disorders alike?
-Answer- Alzheimer’s disease and fatal familial insomnia are similar because they both include degeneration of the neuron cells. Also both are due to protein misfolding; the alpha helix becomes beta sheets. Amyloid plaques build up in both diseases in the brain and the blocks neurotransmitter signaling. Amyloid deposits physically disrupt tissue architecture, suggesting disruption of function. Communication from the brain to the body and the body to the brain are not received due to this buildup. Both Alzheimer’s disease and fatal familial insomnia have the symptom of dementia. As for cures of the diseases, there are not any, but like Alzheimer’s Disease, they both look to use gene therapy in order to insert the correct gene into an affected individual altering his/her gene expression making it what it should be for the expression of the correct protein.
2. What are prions?
-Answer- Prions are mutated proteins that do not self replicate. Prions have been implicated in the formation of amyloid plaques that are seen in both FFI and Alzheimer’s. They are thought to infect normal proteins and change their folding structure. The altered structure is stable and resistant to denaturation which makes it difficult to dispose of them.
3. FFI is an autosomal dominant disease, meaning that if an individual inherits just one dominant allele from either parent, they will develop the disease. However, this disease does not manifest itself phenotypically until after reproductive age. So can this disorder be acted on by natural selection? What about Alzheimer’s? What is maintaining these disorders in the population?
-Answer- No this order cannot be acted on by Natural Selection because natural selection works on certain phenotypes, and even though the disease does not manifest phenotypically until after reproductive age, it is still present in the genotype. Therefore it can still spread without being selected against. By the time a person realizes they have the disease they will have probably reproduced and passed their genes to the next generation. Alzheimer's is the same way, since it only shows itself in the later stages of life, sufferers would have already spread their genes to the next generation before they realize they are carriers. These disorders remain in teh population because they only appear after the reproductive age, which is usually to late for them to be selected against.
4. FFI is caused by a single mutation that, in the presence of methionine at amino acid position 129, changes aspartic acid to asparagine. This same mutation, in the presence of valine at position 129, causes a separate prion-disease called Creutzfeldt-Jacob syndrome. In cattle, the homologous syndrome is Mad Cow disease. How can studying protein folding and mis-folding help in understanding diseases like these?
-Answer- Studying how this protein folds could possibly lead to future gene therapies by knowing how the properly folded protein looks and acts. This can allow for disease identification early in life and treatment options to help prevent a sad death and transmission to offspring. Since FFI is caused by protein mis-folding in the presence of a certain chemical, methionine, maybe the presence of another chemical could help change new proteins being made to fold correctly.
This disease was discussed last week on Medical Mysteries: (http://video.google.com/videoplay?docid=760959254431325673&q=fatal+familial+insomnia&total=3&start=0&num=10&so=0&type=search&plindex=0
5. The two sisters in this story lost their mother to FFI. One sister chose to be tested for the mutation, while the other sister did not. Would each of you want to know whether or not you had a disease such as this, or would you rather remain unaware?
-Answer-
- Kevin - I would want the test because I would then know how long I had to accomplish what I wanted in life and live it to the fullest.
- Victor - I would rather not be tested for it just because that if you know about it, you would be living in fear and that eventually you will die. There is not cure for it at the moment, so really there is no reason to know that you have it and if you were to have that genetic mutation you would worry that you will live a life of sickness and die. All in all, although knowledge is important in living, sometimes you have to say, “not this time” to understand to live your life to the fullest with no regrets.
- Megan - I would not get tested, because there’s no treatment for it; better to live my life without knowing that it will be cut short.
- Frank - I would want to be tested so that I am aware of whether or not I am going to suffer such a disease. At least that way I can get my priorities in life sorted before the disease hits me.
Further reading: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600072
1. Based on your research into Alzheimer’s disease and your interview, how are these two disorders alike?
-Answer- Alzheimer’s disease and fatal familial insomnia are similar because they both include degeneration of the neuron cells. Also both are due to protein misfolding; the alpha helix becomes beta sheets. Amyloid plaques build up in both diseases in the brain and the blocks neurotransmitter signaling. Amyloid deposits physically disrupt tissue architecture, suggesting disruption of function. Communication from the brain to the body and the body to the brain are not received due to this buildup. Both Alzheimer’s disease and fatal familial insomnia have the symptom of dementia. As for cures of the diseases, there are not any, but like Alzheimer’s Disease, they both look to use gene therapy in order to insert the correct gene into an affected individual altering his/her gene expression making it what it should be for the expression of the correct protein.
2. What are prions?
-Answer- Prions are mutated proteins that do not self replicate. Prions have been implicated in the formation of amyloid plaques that are seen in both FFI and Alzheimer’s. They are thought to infect normal proteins and change their folding structure. The altered structure is stable and resistant to denaturation which makes it difficult to dispose of them.
3. FFI is an autosomal dominant disease, meaning that if an individual inherits just one dominant allele from either parent, they will develop the disease. However, this disease does not manifest itself phenotypically until after reproductive age. So can this disorder be acted on by natural selection? What about Alzheimer’s? What is maintaining these disorders in the population?
-Answer- No this order cannot be acted on by Natural Selection because natural selection works on certain phenotypes, and even though the disease does not manifest phenotypically until after reproductive age, it is still present in the genotype. Therefore it can still spread without being selected against. By the time a person realizes they have the disease they will have probably reproduced and passed their genes to the next generation. Alzheimer's is the same way, since it only shows itself in the later stages of life, sufferers would have already spread their genes to the next generation before they realize they are carriers. These disorders remain in teh population because they only appear after the reproductive age, which is usually to late for them to be selected against.
4. FFI is caused by a single mutation that, in the presence of methionine at amino acid position 129, changes aspartic acid to asparagine. This same mutation, in the presence of valine at position 129, causes a separate prion-disease called Creutzfeldt-Jacob syndrome. In cattle, the homologous syndrome is Mad Cow disease. How can studying protein folding and mis-folding help in understanding diseases like these?
-Answer- Studying how this protein folds could possibly lead to future gene therapies by knowing how the properly folded protein looks and acts. This can allow for disease identification early in life and treatment options to help prevent a sad death and transmission to offspring. Since FFI is caused by protein mis-folding in the presence of a certain chemical, methionine, maybe the presence of another chemical could help change new proteins being made to fold correctly.
This disease was discussed last week on Medical Mysteries: (http://video.google.com/videoplay?docid=760959254431325673&q=fatal+familial+insomnia&total=3&start=0&num=10&so=0&type=search&plindex=0
5. The two sisters in this story lost their mother to FFI. One sister chose to be tested for the mutation, while the other sister did not. Would each of you want to know whether or not you had a disease such as this, or would you rather remain unaware?
-Answer-
- Kevin - I would want the test because I would then know how long I had to accomplish what I wanted in life and live it to the fullest.
- Victor - I would rather not be tested for it just because that if you know about it, you would be living in fear and that eventually you will die. There is not cure for it at the moment, so really there is no reason to know that you have it and if you were to have that genetic mutation you would worry that you will live a life of sickness and die. All in all, although knowledge is important in living, sometimes you have to say, “not this time” to understand to live your life to the fullest with no regrets.
- Megan - I would not get tested, because there’s no treatment for it; better to live my life without knowing that it will be cut short.
- Frank - I would want to be tested so that I am aware of whether or not I am going to suffer such a disease. At least that way I can get my priorities in life sorted before the disease hits me.
Wednesday, February 18, 2009
Expert Interview
Interview of Nancy Murphy on Azheimer’s
Megan : Before starting with questions, we wanted to give you a brief overview of what we are doing. We are working on a project for our evolution class which focuses on the use of grid-computing and Alzheimer’s. Grid-computing is a technology that allows computers all over the world to network and work on solving complex problems. In particular, we are using Folding@Home, which is a grid-computing project which aims to “understand protein folding, misfolding, and related diseases.” There have been several scientific papers written from what this project has found. As Alzheimer’s is one disease they focus on, they hope to find more about causes and eventually cures. We are interviewing you tonight in order to learn more about Alzheimer’s that we might apply to our project.
Frank: Can you tell us about your experience with Alzheimer’s?
As an OT, I worked in a dementia program for veterans with dementia. I underwent a weeklong Certification training in the Claudia Alan Treatment, which is an active form of treatment.
Victor : Can you give us a brief background of the disease?
A specific form of dementia in which one of the primary symptoms is loss of memory, primarily short-term, with the long term memory intact. It is progressive and the earlier the onset, the worse the prognosis. It eventually involves motor skills to the point of inability to swallow or move on their own.
Frank: How does Alzheimer’s differ from other types of dementia?
Alzheimer’s follows a more specific course. It differs from vascular dementia by a marked decrease in abilities and then recovery. Alzheimer’s is more gradual. The only way to distinguish is after death through an autopsy.
Victor: Does Alzheimer’s run in families?
Yes, there is thought to be a genetic component, but all of the mechanisms are not yet understood.
Frank: How prevalent is Alzheimer’s?
There are around 5 million cases in the US.
Victor: Is there a cure or any possible treatments for Alzheimer’s?
There is not a cure at this moment but the most promising up and coming treatment looks to be stem cell research.
Megan: What do you think about the using grid-computing to find possible cures?
I think it’s a wonderful idea to use this; another source of information is sharing research with other countries and watching their trends.
Kevin: Do you see a relationship between evolution and Alzheimer’s?
Possibly ,because it seems to be much more prevalent now than before, so there must be an evolutionary aspect to it.
Megan: Is there any other information that you think would be interesting or helpful for us to know?
As the disease progresses, the victim goes backwards in development as in reverse development, such as:
Teen (emotional, lose inhibitions) -> childlike (need supervision) -> infancy (unable to feed oneself)
Megan : Before starting with questions, we wanted to give you a brief overview of what we are doing. We are working on a project for our evolution class which focuses on the use of grid-computing and Alzheimer’s. Grid-computing is a technology that allows computers all over the world to network and work on solving complex problems. In particular, we are using Folding@Home, which is a grid-computing project which aims to “understand protein folding, misfolding, and related diseases.” There have been several scientific papers written from what this project has found. As Alzheimer’s is one disease they focus on, they hope to find more about causes and eventually cures. We are interviewing you tonight in order to learn more about Alzheimer’s that we might apply to our project.
Frank: Can you tell us about your experience with Alzheimer’s?
As an OT, I worked in a dementia program for veterans with dementia. I underwent a weeklong Certification training in the Claudia Alan Treatment, which is an active form of treatment.
Victor : Can you give us a brief background of the disease?
A specific form of dementia in which one of the primary symptoms is loss of memory, primarily short-term, with the long term memory intact. It is progressive and the earlier the onset, the worse the prognosis. It eventually involves motor skills to the point of inability to swallow or move on their own.
Frank: How does Alzheimer’s differ from other types of dementia?
Alzheimer’s follows a more specific course. It differs from vascular dementia by a marked decrease in abilities and then recovery. Alzheimer’s is more gradual. The only way to distinguish is after death through an autopsy.
Victor: Does Alzheimer’s run in families?
Yes, there is thought to be a genetic component, but all of the mechanisms are not yet understood.
Frank: How prevalent is Alzheimer’s?
There are around 5 million cases in the US.
Victor: Is there a cure or any possible treatments for Alzheimer’s?
There is not a cure at this moment but the most promising up and coming treatment looks to be stem cell research.
Megan: What do you think about the using grid-computing to find possible cures?
I think it’s a wonderful idea to use this; another source of information is sharing research with other countries and watching their trends.
Kevin: Do you see a relationship between evolution and Alzheimer’s?
Possibly ,because it seems to be much more prevalent now than before, so there must be an evolutionary aspect to it.
Megan: Is there any other information that you think would be interesting or helpful for us to know?
As the disease progresses, the victim goes backwards in development as in reverse development, such as:
Teen (emotional, lose inhibitions) -> childlike (need supervision) -> infancy (unable to feed oneself)
Thursday, February 12, 2009
What is Alzheimer's?
Alzheimer's is a progressive brain disease which primarily effects people over 60. There are two types of Alzheimer's, although their symptoms and progression are very similar. The first type is early-onset and this disease first begins to show before the age of sixty, sometimes as early as thirty. Late-onset begins after the age of sixty. They are considered seperately, because it has been found that they are brought about by different genetic mutations.
Alzheimer's is commonly confused with dementia, which is a general term for loss of memory. Alzheimer's is in fact the most common type of dementia. It destroys brain cells, which eventually leads to memory loss and loss of function. It may start out with just small memory lapses, but eventually worsens to the point where one cannot sit up on their own.
Biologically, Alzheimer's leads to nerve damage and tissue loss within the brain; there is actually a notable size difference between a healthy brain and one affected with Alzheimer's. This shrinkage is particularly severe in the hippocampus which is responsible for the formation of new memories. Clusters of protein, called plaques, also form withing the brain of Alzheimer's patients; these plaques inhibit the movement of nutrients to other cells, which often leads to cell death.
There are currently 5 million Americans living with Alzheimer's and there is no cure. All of this information and more can be found at www.alz.org which is the website for the Alzheimer's Association.
Alzheimer's is commonly confused with dementia, which is a general term for loss of memory. Alzheimer's is in fact the most common type of dementia. It destroys brain cells, which eventually leads to memory loss and loss of function. It may start out with just small memory lapses, but eventually worsens to the point where one cannot sit up on their own.
Biologically, Alzheimer's leads to nerve damage and tissue loss within the brain; there is actually a notable size difference between a healthy brain and one affected with Alzheimer's. This shrinkage is particularly severe in the hippocampus which is responsible for the formation of new memories. Clusters of protein, called plaques, also form withing the brain of Alzheimer's patients; these plaques inhibit the movement of nutrients to other cells, which often leads to cell death.
There are currently 5 million Americans living with Alzheimer's and there is no cure. All of this information and more can be found at www.alz.org which is the website for the Alzheimer's Association.
Friday, January 30, 2009
Grid and Topic
We are running the Folding@Home Grid. It focuses on protein folding and is working towards finding treatments for Alzheimer's Disease, Cancer, Huntington's Disease, Osteogenesis, Imperfecta, Parkinson's Disease, Ribosome & antibiotics. Our group will specifically focus on Alzheimer's Disease.
Subscribe to:
Posts (Atom)
