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BRAIN MALFUNCTION?
DeeBee
Posted: Sunday, February 19, 2012 11:34:52 AM

Rank: Advanced Member

Groups: Member

Joined: 7/23/2009
Posts: 1,578
Location: United Kingdom
DeeBee wrote:
Here's a nice 'in a nutshell' account of genetic diseases.........

http://www.humanillnesses.com/original/Gas-Hep/Genetic-Diseases.html

...., it was said at the Oz Symposium that the 'genetic aspect' of MND had been seriously underestimated.



......and another revealing account of genetic hiccups....

http://www.nature.com/scitable/topicpage/genetic-causes-of-adult-onset-disorders-34609

'Researchers do know that genetic diseases fall into three main causative categories: defects in a single gene, mutations in multiple genes, and chromosomal abnormalities. While many genetic diseases manifest at birth, others do not show symptoms until later in life, some 30 to 70 years later. In the framework of late-onset disease, researchers know that polygenic disorders outnumber other types by orders of magnitude (Wright et al., 2003). Nonetheless, the causes of onset and progression of such disorders are poorly understood due to the complexity of the genetic mechanisms involved, as well as the interplay between these mechanisms and the environment. Some factors that trigger incurable diseases after decades of healthy life have been proposed, however. These factors, as described in the sections that follow, help explain the reasons for the marked prevalence of polygenetic disorders among the older population.

Accumulation of Harmful Mutations

A diverse and deadly list of afflictions can be categorized as late-onset disorders, including numerous cancers, Alzheimer's disease (AD), and schizophrenia, to name but a few. While some mutations that contribute to these disorders are present at birth, many more of these mutations arise from intrinsic failures of the genomic replication mechanisms within cells. Some of these failures can be traced to mutagens in the environment. In addition to causing mutations, mutagens can also trigger the expression of genes already present in the genome that are otherwise dormant. Together, this combination of accumulated harmful mutations and inappropriately activated genes can eventually manifest in pathology.'

http://www.mnd.ie/research-explained/genetic-studies-in-mnd ( re. Illumina SNP chips )

http://www.answers.com/topic/mutagen
De Laval
Posted: Sunday, February 19, 2012 11:45:13 AM
Rank: Advanced Member

Groups: Member

Joined: 8/19/2011
Posts: 416
Location: Netherlands
Olly
. The discussion of cancer and ALS same I leave to you and Eric about it, but do have a few comments.
Here in the Netherlands are diagnosed and also looked through DNA and after discussions with the patient to see whether it also occurs in the family.
If it is not in the family is still the DNA is examined for other possible diseases.
But the outcome is just 90% in sporadic ALS or as you keep saying People with ALS (PALS).
Or the FALS or famliaire shape is only 10%, and is therefore known in the corresponding family ..
And you're right that mice never will answer the ALS mystery not now and not in 100 years.


Jan
Olly
Posted: Sunday, February 19, 2012 12:50:33 PM

Rank: Advanced Member

Groups: Member

Joined: 7/4/2011
Posts: 1,289
Location: United Kingdom
Jan,
I didn't say that mice will not solve the riddle of ALS just that SOD1 mice model is not good or robust enough for solving SALS, unless they are extremely lucky.

As scientist don't know what causes SALS they are hoping the there is enough information in what they find within the SOD1 mice to lead then to some sort of palliative drug for SALS.

Unfortunately commercial funding has an influence on the research as research companies may not make enough money from curing a small subset of ALS, so most testing is directed at curing SALS.

So they use the wrong model to test drugs to see if they work on the majority of of PALS who, at this time, are seen to not have a genetic defect.

Good to hear, though, that they undertake genetic testing for ALS in Holland. Someone there understands the importance of doing so.


Into the heart, an air that kills, from yon far country blows.
What are those blue remembered hills, what sphires what farms are those.
That is the land of lost content,I see it shining plain,
The happy highways where I went and cannot come again
De Laval
Posted: Sunday, February 19, 2012 1:15:56 PM
Rank: Advanced Member

Groups: Member

Joined: 8/19/2011
Posts: 416
Location: Netherlands
Olly.
Yeah you did say it so this were my own words but i believe that mice will not bring the solution,you mention some reasons.
The DNA here is in corporation with the university of Leuven because there are the specialist for DNA inquiry and now the patients must go back for another test after the discovering done by j Teepu Siddique last augustus and they are try to find those gen in the FALS patients .
The most work will be done in Leuven

Jan
Olly
Posted: Sunday, February 19, 2012 1:19:25 PM

Rank: Advanced Member

Groups: Member

Joined: 7/4/2011
Posts: 1,289
Location: United Kingdom
Jan,
if you see any of the Doctors say good luck and best wishes to them for me.. hooray for Holland.

Into the heart, an air that kills, from yon far country blows.
What are those blue remembered hills, what sphires what farms are those.
That is the land of lost content,I see it shining plain,
The happy highways where I went and cannot come again
De Laval
Posted: Sunday, February 19, 2012 1:48:36 PM
Rank: Advanced Member

Groups: Member

Joined: 8/19/2011
Posts: 416
Location: Netherlands
Olly.
Is it not the same in the UK i mean the inquiry to find those gen in FALS i tough the were a good corporation between al the countries .

Jan
Olly
Posted: Sunday, February 19, 2012 1:58:51 PM

Rank: Advanced Member

Groups: Member

Joined: 7/4/2011
Posts: 1,289
Location: United Kingdom
Jan,
not as far as I know in UK.
I was just asked if ALS ran in my family and other than that nothing?

Into the heart, an air that kills, from yon far country blows.
What are those blue remembered hills, what sphires what farms are those.
That is the land of lost content,I see it shining plain,
The happy highways where I went and cannot come again
De Laval
Posted: Sunday, February 19, 2012 2:29:24 PM
Rank: Advanced Member

Groups: Member

Joined: 8/19/2011
Posts: 416
Location: Netherlands
Olly.
I ask my family too but nothing so i have the SALS .

Jan
Olly
Posted: Sunday, February 19, 2012 2:35:48 PM

Rank: Advanced Member

Groups: Member

Joined: 7/4/2011
Posts: 1,289
Location: United Kingdom
Jan,
without a genetic test looking for the known genes of FALS you wouldn't really know.
The chances are you are SALS but how can you be sure with so many genetic defects now being discovered?


Into the heart, an air that kills, from yon far country blows.
What are those blue remembered hills, what sphires what farms are those.
That is the land of lost content,I see it shining plain,
The happy highways where I went and cannot come again
De Laval
Posted: Monday, February 20, 2012 4:37:45 AM
Rank: Advanced Member

Groups: Member

Joined: 8/19/2011
Posts: 416
Location: Netherlands
Olly.
My DNA were tested and the say no FALS but that were 3 years ago

Jan
DeeBee
Posted: Wednesday, February 22, 2012 5:16:27 AM

Rank: Advanced Member

Groups: Member

Joined: 7/23/2009
Posts: 1,578
Location: United Kingdom
DeeBee wrote:


......and another revealing account of genetic hiccups....

http://www.nature.com/scitable/topicpage/genetic-causes-of-adult-onset-disorders-34609

'Researchers do know that genetic diseases fall into three main causative categories: defects in a single gene, mutations in multiple genes, and chromosomal abnormalities. While many genetic diseases manifest at birth, others do not show symptoms until later in life, some 30 to 70 years later. In the framework of late-onset disease, researchers know that polygenic disorders outnumber other types by orders of magnitude (Wright et al., 2003). Nonetheless, the causes of onset and progression of such disorders are poorly understood due to the complexity of the genetic mechanisms involved, as well as the interplay between these mechanisms and the environment. Some factors that trigger incurable diseases after decades of healthy life have been proposed, however. These factors, as described in the sections that follow, help explain the reasons for the marked prevalence of polygenetic disorders among the older population.

Accumulation of Harmful Mutations

A diverse and deadly list of afflictions can be categorized as late-onset disorders, including numerous cancers, Alzheimer's disease (AD), and schizophrenia, to name but a few. While some mutations that contribute to these disorders are present at birth, many more of these mutations arise from intrinsic failures of the genomic replication mechanisms within cells. Some of these failures can be traced to mutagens in the environment. In addition to causing mutations, mutagens can also trigger the expression of genes already present in the genome that are otherwise dormant. Together, this combination of accumulated harmful mutations and inappropriately activated genes can eventually manifest in pathology.'

http://www.mnd.ie/research-explained/genetic-studies-in-mnd ( re. Illumina SNP chips )

http://www.answers.com/topic/mutagen


Here's another excellent 3 minute reminder of some key issues......

http://www.youtube.com/watch?v=rhjCEH-sqvQ

.....this time by the recent award winning Prof Chris Shaw.

http://www.scoop.it/t/als-lou-gehrig-s-disease
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