In 2009 two scientisis, an Aussie and New Zealander, as part of the ANZgene project discovered for the first time in MS history the link to genetic suseptibility and the environment (Vit D). The finding also proved the autoimmunity issue as the same genes are involved in the other autoimmune diseases I mentioned earlier. Previously to this discovery MS was only thought to be autoimmune but they now know it is.
Below are some snippets from one of my presentations.
MS is a complex disease given there are several pathophysiological processes which are still unclear.
What we do know: An interaction between anti-myelin T cells and antigen-presenting glial cells is a crucial step in the cascade of immune events that lead to the inflammatory lesions in MS.
→ T cells become auto-reactive, cross the blood-brain barrier, and attack the myelin sheath
→ Leads to loss of myelin sheath
→ Plaques (scars) develop from proliferation of oligodendrocytes (gliosis)
→ Slowing down or stopping of impulse conduction
→ During repeated attacks fewer effective re-myelination occurs
→ This results in axonal damage which is irreversible
Lesions characteristically involve the white matter, especially around the periventicular regions, optic nerves, brainstem, cerebellum, and spinal cord.
2007 – An Australian scientist discovered the MS susceptibility gene IL-7Ra.
2009 - Australian and New Zealand researchers, as part of MS Australia’s ANZ gene research program, discovered two new genes. This ground breaking discovery, revealed genetic susceptibility as well as links between other autoimmune diseases such as: Diabetes 1, Rheumatoid arthritis, and Graves disease. It also highlighted Vitamin D as a possible causal link. It was the first discovery that demonstrated a link with environmental factors.
2011 – Further research was undertaken in regard to gene CYP27B1 which is related to Vitamin D. This research concluded there is a strong connection.
2012 - The discovery of the link to Vitamin D being a probable cause, and which is also implicated in the other autoimmune diseases mentioned, has led the way to new research. World-first clinical trials are underway using Vitamin D as a prevention.
In regards to looking for cures, we definitely need one! I am certainly not suggesting that people wanting a cure is wrong. My point is more so directed at pharmacuetical companies and their 'clinical trials'. Because of pressure from the community too many properly tested drugs are making into onto the market and giving people false hope. None of these drugs really work effectively long term, they are what's known as the CRAB drugs. There are newer drugs that have made it to the marketplace in recent years - one is tysabri. It was actually taken off the market in the US for a period of time due to a few deaths.
It causes what is known as PML (progressive multifocal leukoencephalitis) in some people. PML is a rare and usually fatal viral disease characterised by progressive damage or inflammation of the white matter. The drug co managed to get this back on the market with a black label warning which most patients really aren't informed as to the dangers. They are just so desperate to find something that may work that they will often go with whatever the neurologist suggests or ask for whatever they have heard is new. Effectively in regards to tysabri all these people now are human guinea pigs! I could go on and write a lot more on this subject but I won't as got to be somewhere shortly. The latest is, however, that people who are JC positive (a lot are, and people can become positive while on it) and take tysabri are at high risk of developing PML after 2 years of treatment. So why put people on it in the first place... They also know that coming off tysabri causes aggressive rebound attacks.
But back to DMD's (disease modifying drug) - interferon. In 1993 interferon beta 1b was the first DMD to be approved by the US. It was claimed to reduce severity and frequency of MS attacks. In 1996 interferon beta 1a was also approved claiming the same. In 2012 it was found that interferon beta b is ineffective for the treatment of MS. In a nutshell it the overall effect was it does very little compared to no medication. This was published in JAMA around July from memory.
Previous to this scientists had found that some people on interferons diease activity worsened considerably. They believe this is because of some kind of genetics issue and are trying to formulate a blood test to determine who would benefit and who wouldn't. But in all honesty why prescribe the drug when what they claim doesn't appear to be the case?!
In regards to current research Australian scientists found a specific gene that appears to halt the progression of MS in model MS. These findings were published in Oxford's Brain journal earlier this year.
A team of biologists at the University of Portsmouth have been awarded £600,000 to research the impact on the ageing of the brain and cognitive decline.
The study will focus on a protein known as Kir4.1 which is a key element in controlling special cells in the brain and spinal cord which form myelin, a substance which insulates the brain’s wiring. The study will take 3 years to complete and may help MS and Alzeimer sufferers.
Unfortunately we need human guinea pigs, but it should not be at the expense of those who do not want to be part of a human trial, and basically because a lot of the data publshed from trials is bias and there is a huge push from the MS community, these drugs get through the system a lot more quickly without long term efficacy being known. Then years later we see the damage...
There needs to be stronger constraints on human trials. All data, whether positive or negative, needs to be published. Not just selective data which is what happens more often than not. It is all about making profit for the shareholders of these lrage pharmceutical companies, rather than about what is right for the person with the disease!