Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743

This is potentially very exciting.
http://www.sciencedirect.com/science/article/pii/S1096719211003787

Patient Family Forum

FARA(A) announced it will be holding its inaugural patient family forum,
to be held on Sunday November 27th in Melbourne.

FA in SA is proud to be a part of this event, and we look forward to
seeing many patients and families at this wonderful event.

Further details to follow shortly

SA scientist to speak at FARA(A) Review meeting

Dr Tara Pukala of the University of Adelaide, recently spoke of her work
in Genetic Protein Structure and the consequences for Human Disease.
FARA(A) has now invited her to share her research concepts at the
Scientific Review meeting to be held at end of November.

FA in SA is very excited by this, and looks forward to hearing more of
her exciting work

http://blogs.adelaide.edu.au/researchtuesdays/2011/09/14/infiltrating-the-cell/

http://www.adelaide.edu.au/directory/tara.pukala

Sunshine not so FREE

Please Share

When I was married, I was astounded at the massive profit margin on
anything to do with weddings!

When I was pregnant, I was astounded at the massive profit margins on
anything to do with babies!

When I became the mother of a disabled child, all the rest paled into
insignificance.

Society is often encouraged to get fit and stay active, and the
promotion of "free" activities like getting outside and walking or
running are favourites.... well there is nothing free about getting
outside for the disabled.

Basic equipment to enable the disabled are astronomical.... believe me,
getting into that sunshine, has never been so expensive.

Recently I was pricing a new accessory for a wheel chair, nothing much,
just a couple of handles attached to the axle. $5000. and that's
BEFORE the cost of the wheelchair.

A simple small crane to lift a mobility scooter into and out of the
car .... $6000

These are just a couple examples, but you get the idea.....Is this
covered by health insurance????

NO!

Does the government cover this?

NO!

Do Charities cover this?

TO A POINT!... but there are LONG cues... meanwhile we stay inside

So next time you are out walking and enjoying the sun, be thankful....
somewhere nearby where you are walking, there is probably a disabled
family, struggling to enjoy this basic free right!

Research news

Here are some reasearch items of interest

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen
Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts
http://www.plosone.org/article/info%3Adoi%2F10.1371%
2Fjournal.pone.0026098

DELIVERY OF MRNA FOR THE AUGMENTATION OF PROTEINS AND ENZYMES IN HUMAN
GENETIC DISEASES
http://www.freepatentsonline.com/y2011/0244026.html

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct
Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
http://www.sciencedirect.com/science/article/pii/S0002929711003971

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

This is interesting.

http://nar.oxfordjournals.org/content/early/2011/07/09/nar.gkr542.short

New project: Identification of the E3 ligase that ubiquitinates frataxin

Identification of the E3 ligase that ubiquitinates frataxin
Principal researcher: Dr Roberto Testi, Department of Experimental
Medicine,
University of Rome, 'Tor Vergata,' Italy
Scientific summary
Understanding whether and how frataxin is normally degraded might
provide insights
on possible strategies aimed at preventing frataxin degradation in FRDA
patients,
thus allowing frataxin accumulation and increasing frataxin
bioavailability. We
observed that frataxin is degraded via the ubiquitin-proteasome system
and that by
preventing the degradation process, frataxin levels in fact rise in FRDA
cells. We also
identified the lysine responsible for ubiquitination. In fact, a
frataxin lacking the critical
lysine cannot be ubiquitinated and has a longer half life. We now plan
to identify the
E3 ligase(s) that interacts with frataxin and mediates frataxin
ubiquitination. This
information should reveal new potential pharmacological targets for
FRDA.
Lay summary
FRDA is caused by the low levels of the protein frataxin in cells of
affected
individuals, due to scarce production. Since normally all proteins are
constantly
produced and degraded, one way to possibly increase frataxin levels is
to slow down
its degradation. We therefore started to understand the mechanisms by
which
frataxin is degraded in human cells. The aim of this project is to
refine our
understanding of the modalities of frataxin degradation and to further
elucidate the
molecular mechanisms. This information could be instrumental in
developing new
therapeutic approaches focused on preventing frataxin degradation.
This project is co-funded with the Friedreich's ataxia Society Ireland
(FASI).
For more support or information please contact: Ataxia UK, Lincoln
House,
Kennington Park, 1 – 3 Brixton Road. London SW9 6DE
Website: www.ataxia.org.uk.
Helpline: 0845 644 0606 Tel: +44 (0)20 7582 1444 Fax: +44 (0)20 7582
9444
Email: helpline@ataxia.org.uk.