Jornal da Síndrome de Down e Anormalidades Cromossômicas
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Genetic Variations: Heroes or Villains

Mahima Kaushik, Swati Chaudhary, Swati Mahendru, Mohan Kumar and Shrikant Kukreti

Gene pool of every organism has shown a wide occurrence of genetic variations. Variations have not only been associated with diseases like cancer, turner syndrome, sickle cell anaemia, cystic fibrosis etc., but some of them have even been proved to be beneficial in certain cases like for increasing bone density, lowering down cholesterol level, and for developing malaria resistance. Genetic variations or switches have also been explored for their significant role in evolution of human species. Monogenic diseases are the inherited disorders caused by the mutations in a single gene. Single Nucleotide Polymorphism, structural variants and genomic rearrangements are considered as some of the forms of genetic mutations. Genetic mutations are the fundamental cause of some monogenic disorders such as Schizophrenia, Alzheimer’s disease, Hutchinson-Gilford Progeria syndrome (HGPS), Proteus syndrome and Congenital generalized hypertrichosis (CGH). However, some variants have even offered protection against a disease like blocking of HIV infection due to mutations in co-receptors needed for entry of infection into the cells. This review aims to provide insights into the role of variants present in the genes associated with the monogenic disorders in order to determine the underlying mechanism of the disease, which might further pave a way for the scientists to discover the therapeutic approaches for dealing with the same.