The 2012 MND and Me Gala Dinner will be held on St. Patrick’s Day Saturday March 17th at Suncorp Stadium and you can still purchase tickets to this worthwhile event

Buy Tickets Here…

It will once again be a fun filled night with the addition of plenty of Irish Entertainment. Tickets sales started Friday 10th February 2012, so make sure you organise your table of 10 quickly, the 2011 event sold out in 4 days!

by Dr. Rob Henderson (Neurologist – RBWH MND Clinic Brisbane)

What do we know about the cause of MND?

While MND is rarely recognized as an inherited (familial) disease, the recent focus has been on genetic susceptibility and the interplay between genes and environment. Since the SOD1 gene was discovered 20 years ago, in the last five years the TDP43, FUS and Ubiquitin genes have been linked with familial MND with the protein products identified in a very small proportion of sporadic MND cases.

This year, the C9ORF72 gene was identified – it still has this complex name as it is unknown what the gene product does! This gene appears to be present in a greater proportion of sporadic cases than the previously identified genes. The gene was identified not in the standard intron/exon sequences, but in a connecting piece on chromosome 9 – many groups had identified something special about chromosome 9 but the gene was not found using standard advanced gene sequencing techniques. The focus in the next year will almost certainly be on determining this gene’s function.

C9ORF72 is widely expressed in tissue and C9ORF72 similarities with spinocerebellar ataxia and myotonic dystrophy exist raising opportunities for new avenues to explore. One interesting concept is that other mammals don’t develop MND but they do have the C9ORF72 gene. Another interesting finding is that in the Finnish population C9ORF72 appears to have arisen from a common founder (ie from one person), and in the Finnish population it is commonly found in the sporadic population. It remains unclear why in 80% of the population the disease is not present in family members. It is also unclear why if MND has not occurred by the age of 80, it’s occurrence decreases.

What do the other genes tell us about MND?

The mutation in the ubiquitin gene causes a predisposition to neuronal cell stress. mRNA transcription regulation is impaired leading to altered mRNA splicing with misfolded, aggregation-prone, toxic proteins. Protein aggregates (SOD, TDP43), ultimately all develop UbQN positive aggregates. Normally these protein aggregates are found in the nucleus but they are now present in the cytoplasm (eg TDP43 esp in spinal cord) and persist as “stress granules”.

The common mechanism of neuronal stress

From this neuronal stress, neuronal cell death results from a failure of autophagy or possibly a failure of the proteasome system (and hence a failure of protein recycling). Lysosomes and endoplasmic reticulum might also contribute.

It remains unknown what causes the cascade of neuronal cell death to occur. This is possibly mediated by glial cells in either positive or negative fashion (activation of NFKappabeta- mediated inflammatory signaling possibly intereacting with optineurin). Astrocytes or oligodendrocytes may play a role. Excitotoxicity of cells from disturbed glutaminergic transmission seems a feature.

The influence of environment

The interplay of the genes with the environment isn’t clear as few risk factors have been found with any strong link to MND. Smoking, pesticides (negative effect) and alcohol (positive effect) have been studied with odds ratios less than 2 as a risk factor for MND. A link with prion diseases is also possible.

How does MND start?

MND could start in either spinal cord or brain (or in both locations simultaneously). If it starts in the frontal lobe of the brain (usually with upper motor neurone features), then the uncommon but linked frontotemporal dementia is more likely to occur given the close association of the motor cortex and anterior frontal lobe.

There is good evidence that the propagation of MND occurs as radial spread ie neighbouring regions are involved depending on whether they are upper motor neurone or lower motor neurone (note this also occurs in FTD which needs to be considered as behavioural and language variants). Does the disease start in one cell or does one region just “gives up” based on how it has been used in life coupled with genetic factors?

Out of the box ideas

One interesting new concept is that ALS can be thought of as the opposite of cancer – in the latter dysregulated cell growth occurs and in ALS the reverse occurs as dysregulated cell death. Normally cell death occurs via necrosis or autophagy or apoptosis and possibly examining these mechanisms in reverse could shed light on the mechanisms of MND.

Award winning Courier Mail journalist Trent Dalton started the ball rolling with his incredible ‘The Long Goodbye’ article back in May 2011. The Queensland Reds then jumped on board in June by wearing special one off Jerseys for their clash against the ACT Brumbies. The match was televised in Australia, New Zealand and South Africa. Our foundation founder, Scott Sullivan addressed the 20,000 strong crowd on MND during half time. Foxsports ‘The Rugby Club’ also produced a story on Scott and the Reds.

The Sunday Night program then took the cause to prime time in October with their story ‘The Ultimate Battle’ which was a 16 minute segment shown both in Australia and New Zealand. Scott Sullivan was also able to speak on local radio with a segment on 4BC with Ian Maurice on the same day.

The cause also received recognition when Scott won the 2011 Queensland Pride of Australia Medal for Courage for his work with the Foundation and in raising awareness of Motor Neurone Disease.

Looking forward, keep an eye out for a story in the ‘That’s Life’ magazine which hits shelves on January 4th 2012.

The MND and Me Foundation is proud to have a strong relationship with two local research programs. Our 2011 research grants supported the research activities of Dr Rob Henderson and his research team at the MND Clinic at the Royal Brisbane and Women’s Hospital, as well as Dr Robyn Wallace and her MND research team at the Queensland Brain Institute at the University of Queensland. We are looking to further extend our support of MND research in 2012.

www.mwrecruitment.com.au

Brookwater Golf & Country Club, QLD Friday 17 February 2012 – Built are pleased to invite you to join us for a spectacular day at Brookwater Golf Club to raise much needed funds for The MND & Me Foundation.

Ask your employer to sponsor a hole at the 2012 Built / MND and Me Foundation Charity Golf Day on Friday 17^th February 2012. It will be a spectacular day out at Brookwater Golf Club with great hospitality and plenty of great prizes up for grabs. We need to fill the 12 remaining hole sponsorships ASAP.

All players will be provided with the best of golfing hospitality. Click link below to open registration form.
Download Registration Form…

• 312 – The total number of swimmers involved.
• 2317 – Total number of individuals who donated to the event.
• $180,000 – The total number of dollars raised by the supporters of the swimmers.
• 1,013,000 – Total number of metres swum.