Role of Genetics and Epigenetics in Human Diseases
Journal Title: International Journal for Research in Applied Science and Engineering Technology (IJRASET) - Year 2017, Vol 5, Issue 6
Abstract
The last two decades have been into a great technical development in the analysis of DNA and the completion of the Human Genome Project in 2003. These Developments eventually led to the discovery of the faulty genes which cause many inherited genetic diseases. This knowledge had given rise to better understanding of the molecular basis of many inherited genetic diseases and why they have the inheritance pattern. Some of the diseases are caused by a single faulty gene, but do not follow a Mendelian pattern of inheritance. From the results of the Researches into one of these disease called Fragile X syndrome, revealed that a DNA fault can enlarge over three generations (a dynamic mutation) until a nearby gene is silenced (switched off). Another disease, Angelman syndrome, confirmed that some human genes are normally subject to genomic imprinting, a phenomenon in which a gene is silenced depending on whether it was inherited from father or from mother. The molecular silencing process (DNA methylation) involved in genomic imprinting is a classic example of epigenetic regulation, in which there is an enduring change in gene activity but without any change in DNA sequence. Epigenetic regulation underpins normal development from the fertilized egg to an embryo with its many different cell types and organs, and may also be involved in response to early life experiences. Understanding the role of numerous genetic variations and epigenetic regulation in general and many genetic disorders such as diabetes, heart disease and cancer is the focus of much current research, and is proving to be a huge challenge. Adult health depends on a complex interaction between inheritance, nutrition and the physical and social environment throughout prenatal development and childhood are discussed as a review in this article.
Authors and Affiliations
Mr. Srinivasan Balakrishnan
Keywords
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