Scientific Breakthrough for Rett Syndrome - Research Paper Example

 Most people see knowledge of science as being discovered, uncovered or found. On the other hand scientific knowledge is much more than that. It is a progression made through the actions and interactions of scientists and engineers using the resources that surrounds them within the natural world (Erickson, 2005). On such progression is an evidence that shows a potential cure for Rett syndrome. Just what is Rett syndrome? Rett syndrome is a neurological development disorder that is characterized by normal early development of infants, followed by loss of purposeful use of the hands, distinctive hand movements, slow brain and head growth, gait abnormalities, seizures and mental retardation (Broome, 2008). Rett syndrome is one of the developmental diseases that specifically affects girls. It falls under the autism spectrum disorders (Guy et al, 2007). It affects 1 on 10,000 girls born. It is the most common cause of autism in girls (Whitehead, 2009). The disease is characterized by several neurological problems including motor defects, mental retardation and physiological defects. Deterioration in language skills, decrease in the head size, irregularities in the rhythm of the heart and autitic symptoms by four years of age are seen (Whitehead, 2009). Since the neurons remain intact, it is not a neurodegenerative disorder (Guy et al, 2007). There is no cure for this devastating neurological disease, although immense research in this field is going on, because of which there is hope for future therapies. The disease is a sex-linked genetic disorder with dominant expression and hence seen only in girls. In more than 90 percent cases, mutation of MeCP2 gene, which encodes methyl CpG binding domain protein is seen. MeCP2 gene is seen in males too. However, males with mutated MeCP2 genes do not survive. There are several types of Rett syndrome. Characteristically, the affected child has normal prenatal and post natal development until 18 months of age, following which, regression in neurological development is noted. This is known as the regressive phase and is marked by manual dexterity, loss of social skills and loss of cranial growth. As the age increases the child develops seizures and hyperventilation. Clinical diagnosis of the disease is established by MeCP2 genetic analysis (Nitnak, 2010) Although recognition of this disorder did not come until 1983, in actuality it was first identified by an Austrian physician named Dr. Andreas Rett back in 1954. After serving in the war as a medic in a German navy hospital, Dr. Rett studied medicine in Innsbruck and Bonn and latter moved to Vienna in 1948 (Hunter, n.d). There was a great need for a children’s hospital in which he continuously fought for by bringing awareness to the mayor and other local politicians. Being that this was a community where disabled children were looked upon as social outcasts, this was a very long and difficult journey (Hunter, n.d). Despite this, Dr Rett never gave up and eventually his determination paid off when Rose Hill opened its doors to patients from all over Europe; making it the first of its kind worldwide. Dr Rett was the only physician in Austria that treated children with disabilities and soon this clinic became a center for the disabled. The story is that Dr Rett noticed two little girls sitting in the waiting room this said clinic that were making the same repetitive hand-washing motions. Latter he found out that there were six other little girls who were patients of his and displayed the same type of behavior. Furthermore in 1960, there was yet another doctor this time in Sweden that noticed these same symptoms in young females. Out of curiosity of this phenomenon, Dr Bengt Hagberg collected various data among these females. Thus, the understanding of Rett syndrome increased. The molecular basis of Rett syndrome was diagnosed in the late 1990s by using mice models. Since then, immense research has been conducted to develop treatment for the devastating disease. Although no definite treatment has come up until now, some of the following treatments have been suggested and are under investigation stage (Nitnak, 2010). Studies addressing genetic studies have looked into restoration of normal MeCP2 function for therapeutic effects. Though studies on Rett syndrome mice have indicated the possibility of such treatment, similar results have not been achievable in a clinical setting. Some pharmacological treatments have been developed. Though these are not curative, they help in the management of disgusting respiratory symptoms. The drug studied is desipramine. In mice with Rett syndrome, this drug lengthens the life span of MeCP2 gene and increases respiratory function. Some research has shown that administration of diet and supplements rich in betaine and folate can increase social interaction and alertness in Rett syndrome girls. Complementary and alternative therapies also have been looked into, but in vain (Nitnak, 2010). Currently treatment of Rett syndrome includes management of symptoms like gastroesophageal reflux, constipation, nutritional problems, seizures and respiratory problems, surveillance of long QT syndrome and scoliosis, increasing communication skills, sleep aids, antipsychotics, parental counseling, antipsychotics, betablockers, physical therpay, speech therapy and occupational therapy (Nitnak, 2010). Through research it has been possible to understand the disease and give scope for break throughs, one of which is the current research by Bird and associates. Professor Adrian Bird is a Group Leader at The Bird Lab which is part of the Wellcome Trust Centre for Cell Biology in the United Kingdom. Despite the vast improvements in knowledge of the genomic DNA sequence of humans (McLaren, 2010). Despite this, there are still questions such as the influence of nucleotide sequence on genome function. Recently there was a study of Rett Syndrome that was led by Professor Adrian Bird and funded by the Wellcome Trust. It was discovered that a faulty protein known as MeCP2 which causes this disease does indeed interact with all the genes in brain cells (Kelly, 2010). This new evidence goes against previous theories that the MeCP2 affected only a few genes (Kelly, 2010). What this new information boils down to is that due to the abundance of the MeCP2 protein found in the brain cells, there is interaction within the entire human genome instead of with just a few selected genes as first thought (Kelly, 2010). Bird is the leading expert in the world with regard to the gene causing Rett syndrome. Bird published a paper in 2007 Feb, which is considered as the landmark paper in Science, because according to the paper, reversibility of symptoms of Rett is possible in mice. This paper has triggered optimism about the possibility of such effect in human beings too, in the near future (RSRT, 2008). Bird studied at the University of Edinburgh and University of Sussex. He started his prominent research career in the year 1990 when he became Buchanan Professor of Genetics at the University of Edinburgh. There he set up the Wellcome Trust Centre for Cell Biology, and since 1999 he has been the director of that lab and research center. In 2000, he became the Governor of the Wellcome trust, which is the largest medical research charity in the world and thereafter, in 2007, he became the Deputy Chairman of the trust. Bird has also served as Chairman of Scientific Advisory Board for the Rett Syndrome Research Foundation, as trustee of Kirkhouse Trust and as Chairman of Breakthrough Breast Cancer UK. He also serves as editor for the boards of Molecular and Cellular Biology and Molecular Cell (RSRT, 2008). Bird is the leading expert in the world with regard to the gene causing Rett syndrome. Bird published a paer in 2007 Feb, which is considered as the landmark paper in Science, because according to the paper, reversibility of symptoms of Rett is possible in mice. This paper has triggered optimism about the possibility of such effect in human beings too, in the near future (RSRT, 2008). The most important question posed for the researchers is "can viable but defective neurons be repaired, or is the damage done during development without normal MeCP2 irrevocable?" (Guy et al, 2007). Research by Bird and others has shown that "daily injections of an active fragment of IGF-1 in mice that expressed Rett-syndrome like symptoms could significantly reduce movement and respiratory irregularities" (Whitehead, 2009). However, the mice were not cured of the disease. According to Jaenisch, "this is the first realistic way for a drug-like molecule injected into the bloodstream to relieve Rett syndrome symptoms" (cited in Whitehead, 2009). Giacometti opined that "although the treated mice get better and their symptoms don't progress as fast as they normally would, the treated mice still get the symptoms. So it's definitely not a cure, but it could be a co-therapy" (cited in Whitehead, 2009). According to Whitehead (2009), "although researchers have known which gene causes the vast majority of Rett syndrome cases, they have until now been unable to promote nerve cell maturation through administration of a drug, protein, or small molecule." Thus, the study by Bird and associates has contributed to optimism in future treatment and cure of Rett syndrome and thus is a break through research in science. References Bird, A. 2001. A Mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Retrieved on October 15, 2010 from http://www.nature.com/ng/journal/v27/n3/abs/ng0301_322.html Broome, B. 2008. Mikyla-Cure: Racing to Cure Rett Syndrome. Retrieved on Octover 15, 2010 from http://www.mikyla-cure.org/index/rett#overview Guy, J., Gan, J., Selfridge, J., Cobb, S., and Bird, A. (2007). Reversal of Neurological Defects in a Mouse Model of Rett Syndrome. Science, 315(5815), 1143- 1147. Hunter, K. n.d. Tribute to Dr. Andreas Rett. Retrieved on October 15, 2010 from http://www.rettsyndrome.org/about-rett-syndrome/history/history-of-rett-syndrome.html Kelly, C. 2010. Study offers new clues in bid to beat girls’ autism condition. Retrieved on October 17, 2010 from http://www.biology.ed.ac.uk/news/pages/173/ Mclaren, C. 2010. Our Research. Retrieved on October 17, 2010 from http://birdlab.bio.ed.ac.uk/node/10 Nitnak, N. (2010). The prospects for future therapies for Rett syndrome. Retrieved November 1, 2010, from http//www.71074.aspx.htm Rett Syndrome Research Trust or RSRT. (2008). Adrian. P. Bird. Retrieved November 1, 2010, from www.Rett/adrian-p-bird-ph-d.html Whitehead Institute for Biomedical Research (2009, February 10). Possible Treatment For Neurological Disorder Rett Syndrome -- Most Common Basis Of Autism In Girls. ScienceDaily. Retrieved November 1, 2010, from http://www.sciencedaily.com­ /releases/2009/02/090209205047.htm Read More