DNA SEQUENCING IDENTIFIES METABOLIC DISEASES AND ELUSIVE Z-DNA FOUND ON NUCLEOSOMES. María Alejandra Tobón Arango Medicine Student .
DNA sequence is useful in the study of biological processes, for example the mitochondrial diseases, which are disorders resulting from deficiency of one or more proteins located in mitochondria and they are unspecific diseases. The B-DNA form of DNA, can be transformed into the form Z-DNA in a nucleosome, forming a Z-nucleosome that could contribute to the regulation of protein expression.
<ul><li>Mitochondrial diseases affect the way the body produces energy and they are notoriously difficult to diagnose. </li></ul><ul><li>Now DNA sequencing has been successfully moved to the clinic for diagnosing mitochondrial diseases. </li></ul>
<ul><li>Mitochondrial diseases often involve many genes, and symptoms vary across organs. For example, common manifestations can include blindness and seizures. </li></ul>
<ul><li>A study was conducted with 100 children and 10 of them were affected, these diagnoses were in children whose illnesses could not easily be diagnosed using traditional methods. </li></ul>
<ul><li>The study was certificate like a "fantastic study" because "finding genetic mutations in mitochondrial patients is "like searching for a needle in a haystack". </li></ul><ul><li> </li></ul><ul><li>Currently, diagnosing this kind of disorders can take months or even years, but DNA sequencing technology may help to speed things. </li></ul>
I think it is a wonderful technological advance in the area of health, because it contributes to good medical practice to become an indispensable ally in diagnosing a mitochondrial disease, which is a delayed process if it is realized with the conventional methods. With the technique of DNA sequencing, the identification process of mitochondrial diseases is not only 100% sure, it is extremely fast, which also allows to implement in a treatment in the right time to those who suffer from this disease that entails severe repercussions as blindness, seizures, respiratory diseases and even death.
<ul><li>B-DNA is not the only form of DNA. Z-DNA is other form. </li></ul><ul><li> </li></ul><ul><li>At sites where DNA is being copied into RNA (the messenger which is used as the instruction to make proteins) the DNA needs to unwind, and, in a process of negative supercoiling, can form a left-handed variety of the DNA double helix (Z-DNA). </li></ul>
<ul><li>Z-D NA, normally is only found at sites where DNA is being copied, but can also form on nucleosomes. </li></ul>
<ul><li>Recently it has been discovered that could convert B-DNA to Z-DNA on nucleosomes by the addition of SWI/SNF (a protein) and ATP. </li></ul>
<ul><li>The Z-nucleosome is a new formed structure that provides a opportunity for the placement of DNA binding proteins which may recruit, regulate, or block the transcription machinery and hence protein expression. </li></ul>
This new is evidence that if we use science, technology and knowledge as essential tools of the foundations of medicine, medical practice taking into account ethical considerations necessary for each particular case, it becomes an art where combine the forward and the clear principle of beneficence that is inherent in medicine. Here explain interesting situations in which intervention is possible in the genome of an individual, delaying or advancing natural processes of genetic origin, that for many people is unethical, but when it comes to the welfare of a person and improve their physical and mental condition, I personally say that we should not think twice about taking action and taking part in the fantastic studies such as Z-DNA form of DNA for helping them.
<ul><li>The sequencing of DNA has been very important for projects of large-scale sequencing as the Human Genome Project. </li></ul>
<ul><li>DNA sequencing can quickly identify mitochondrial mutations this possibility opens the door to early treatment and timely in order to correct and control mitochondrial mutations, improving the quality of life of people. </li></ul><ul><li>Contributes in applied fields such as forensic investigation. </li></ul>
<ul><li>Meeting of Z-DNA in nucleosomes constitute a further step to understand the concept of remodeling of chromosomes that gave rise to a genome specialized. </li></ul>
<ul><li>Z-DNA participate in gene regulation; presenting an offering Z-nucleosome binding sites for proteins in addition to DNA as restriction endonucleases controlling for such hereditary diseases from one generation to another. </li></ul>
-MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 6. ed. Medellín: UPB. Fac. de Medicina, 2012. 56 p. -Wendy Zukerman. DNA sequencing quickly identifies metabolic diseases. Rev. Méd Science Translational Medicine [Magazine on the internet]. 2012 Jan [cited on 2012 January 27]. Available in: http://www.newscientist.com/article/dn21391-first-diagnosis-of-disease-by-dna sequencing.html DOI: 10.1126/scitranslmed.3003310 -Niveen Mulholland, Yan Xu, Hiroshi Sugiyama, Keji Zhao. Elusive Z-DNA Found On Nucleosomes. Rev. Méd ScienceDaily [Magazine on the internet]. 2012 Jan [cited on 2012 January 27] 2 (1): 3. Available in: http://www.sciencedaily.com/releases/2012/01/120120183042.htm DOI: 10.1186/2045-3701-2-3