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Friediechs Ataxia (FA) has been the most frequent type of ataxia occurring at a mean age of 16 years old in Singapore. The aim of this proposal is to highlight this growing trend in Singapore and to request the Members of the Parliament in Singapore to provide funds for biotechnological research on Friediechs Ataxia, thereby treating patients with such disease in the future.
Background
Friediechs Ataxia is an inherited disease caused by a defective gene known as X25, located on chromosome 9 which prevents the body from producing a normal amount of "frataxin" (a cellular protein). This disease can be inherited through autosomal recessive (common cases) or autosomal dominant (rare cases). Autosomal recessive requires both parents to each have a faulty gene which means they are carriers of FA. 50% of their children would become carriers and 25% would contract the disease. The remaining 25% would be a normal child (as shown in Fig 1.1)
Fig 1.1
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Autosomal dominant only requires one of the parents to have an abnormal gene in its 22 autosomal (non sex) chromosomes where this gene is dominant. This would result in 50% of their children to be carriers of FA (as shown in Fig 1.2).
Fig 1.2
Consequences
Friediechs Ataxia deteriorates nerve cells called neurons in the brain and spinal cord, preventing smooth transfer of electrical signals between neurons. This would lead to a gradual loss of muscle coordination. To a 3rd party, the affected person may look like drunk. It would also degenerate cardiac muscles, resulting in abnormal heart beats (palpitation) and heart failure which eventually leads to death. Currently, there is no cure, but the symptoms can be managed with medication and physical therapy.
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Current Solutions
Exercising for example swimming Avoid resting on bed as it may aggravate walking problems Maintain an acceptable weight Orthopaedic aids (wheelchair, walking sticks) Physiotherapy Medication to reduce muscle tremors and spasms e.g. idebenone, 5-hydroxytryptophan & placebo. Medication to treat heart palpitations Surgery to correct abnormal spine curvatures.
Latest Research
Currently, Interferon-gamma (IFN) has shown to increase production of frataxin. In FA research mice, treatment with interferon gamma preserved sensory neurons, improved muscle function and coordination, and enhanced movement ability (Amy Madson 2012). Furthermore, researchers have tested the protein with cancer cells from a variety of different cultured human cell lines. After 24 hours of exposure to interferon gamma, frataxin level has increased in a dose-dependent manner (higher levels at higher doses) in all three types of cells. A similar dose-dependent upregulation of frataxin occurred in cells taken from healthy volunteers and from FA affected people.
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(Amy Madson 2012). These data suggest that interferon gamma which is naturally produced in our immune system may be the possible treatment for FA in the future.
References
1) http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Friedreich's_at
axia
2) http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm
(2009). Effectiveness and Safety of Treatments for Degenerative Ataxias. Movement Disorder Society, 24(8):1111-24. Review. PubMed PMID: 19412936. http://www.ncbi.nlm.nih.gov/pubmed?term=CarrilloFumero%20R%5BAuthor%5D&cauthor=true&cauthor_uid=19412936
Corrects the Functional Deficits in a Friedreich Ataxia Model. Epub 2012, 21(13):2855-61. PubMed PMID: 22447512. http://www.ncbi.nlm.nih.gov/pubmed?term=vivo%20treatment%20with%20inte rferon-gamma%20in%20Friediech%E2%80%99s%20Ataxia
6) http://www.ncbi.nlm.nih.gov/pubmed/18234531 7) Amy Madson (2012). FA: Immune System Drug Strengthens Mice
http://quest.mda.org/news/fa-immune-system-drug-strengthens-mice
8) http://mda.org/research/gaag/fa-sarsero 9) http://mda.org/research/gaag/fa-richardson
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