Tuesday, 15 May 2012

Mutation of MT2 Gene


Wan Nur Amalina Wan Mamat
42735432

A genetic mutation may be defined as a permanent change in the sequence of a base pair in the DNA  due to the alteration of amino acids in protein which make up the gene[1]. A change in a nucleotide base may led to variations in an organism due to the production of abnormal proteins.  These lead to serious genetic illnesses that are inheritable[2].

A genetic study about MT2 gene were conducted at the Imperial College in London by Professor Philippe Froguel and his team and some individuals fropm instutions in both the UK and France[3]. MT2 gene  act  as a receptor of Melatonin, the hormone produced by the pineal gland[4]. This hormone controls the release of insulin from the pancreas[5]. This mean that  Melatonin assists the body in controlling the blood glucose level.  This hormone also controls the body’s sleep wake cycle[6]

Studies showed that te more unsual variants of MT2 gene caused serious genetic illnesses.  They also dicovered 40 rare mutation as well as four very rare mutations.  The 4 very rare mutations discovered was found to have cause the changes in the protein structure of the melatonin receptor[7]. They analyzed each mutation by sequencing the MT2 gene and they found that the mutations of the gene compeletely prevented the receptor from working[8]. Professor Philippe Froguels and his team focussed on how MT2 gene controlled the molecular cell receptor which allows the melatonin to work[9]. The studies suggested that the mutations in the MT2 gene may disrupt the link between body clock and insulin release which lead to the abnormal glucose level in the blood[10]. The study reveals that people carrying any of the four very rare mutrations are nearly six times more likely to be diagnosed with type 2 diabetes[11].

The scientists concluded that the everyone in the population is at risk of getting the MT2 Gene mutation as many rare mutation occur in DNA[12]. However, this study allows scientists to better understanding of genetic illnesses which can improvise the production of better medications and treatments.






[1] Funding provided by The Children's Tumor Foundation, formerly The National Neurofibromatosis Foundation. What is mutation. viewed on 13th  March 2012 at 9.30 pm’ http://learn.genetics.utah.edu/archive/mutations/index.html
[2] Campbell, Reece, Urry, Cain, Wasserman, Minorsky, Jackson.Biology. 8th Edition. published by Pearson (International Edition).San Francisco. page 344.
[3] Ivanhoe Newswire. Body Clock Receptor Linked to Diabetes. reported on 31 January 2012.  Source: Imperial College London, January 2012. viewed on 11th March 2011 at 9.45 pm. http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=28864&channelid=CHAN-100007
[4] Pineal Gland is a small endocrine gland, part of the epithalamus in the vertebrate brain. Source:
University of Maryland Medical Center (UMMC).  Melatonin.viewed on 12th  March 2012 at 10.00 pm. http://www.umm.edu/altmed/articles/melatonin-000315.htm ;
[5] Ivanhoe Newswire. Body Clock Receptor Linked to Diabetes.  reported on 31 January 2012.  Source: Imperial College London, January 2012. viewed on 11th March 2011 at 9.45 pm . http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=28864&channelid=CHAN-100007
[6] Robert Preidt. Gene Study Sheds Light on Body Clock's Link to Diabetes.  reported on 30 January 2012. viewed on 13th  March 2012 at 9.00 pm. http://health.msn.com/health-topics/diabetes/gene-study-sheds-light-on-body-clocks-link-to-diabetes
[7]Ivanhoe Newswire. Body Clock Receptor Linked to Diabetes. reported on 31 January 2012. Source: Imperial College London, January 2012.  viewed on 11th March 2011 at 9.45 pm. http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=28864&channelid=CHAN-100007
[8] Robert Preidt. Gene Study Sheds Light on Body Clock's Link to Diabetes.reported on 30 January 2012. viewed on 13th  March 2012 at 9.00 pm.  http://health.msn.com/health-topics/diabetes/gene-study-sheds-light-on-body-clocks-link-to-diabetes

[9]  Charlie Osborne. Genetic Mutation increases risk of Type 2          diabetes?. reported on 30 January 2012. viewed on 17th March 2012 at 8.00 pm. http://www.smartplanet.com/blog/smart-takes/genetic-mutation-increases-risk-of-type-2-diabetes/22126

[10] Robert Preidt .Gene Study Sheds Light on Body Clock's Link to Diabetes. reported on 30 January 2012.  viewed on 13th  March 2012 at 9.00 pm. http://health.msn.com/health-topics/diabetes/gene-study-sheds-light-on-body-clocks-link-to-diabetes

[11] Charlie Osborne . Genetic Mutation increases risk of Type 2         diabetes?. reported on 30 January 2012. viewed on 17th March 2012 at 8.00 pm. http://www.smartplanet.com/blog/smart-takes/genetic-mutation-increases-risk-of-type-2-diabetes/22126

[12] Ivanhoe Newswire. Body Clock Receptor Linked to Diabetes.  reported on 31 January 2012.  Source: Imperial College London, January 2012. viewed on 11th March 2011 at 9.45 pm .

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