Hemoglobin is the protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues back to the lungs and consists of four heme groups on each globin chain. Ferrous ion is attached to the oxygen of all heme groups1. Hemoglobin consists of 2 (two) pairs of globin chain (α-globin and β-globin) in human body 2. Eight types of Hb are present and among them six types are produced by α-globin chain. The α-globin chain possesses two α-globin genes which exist on chromosome number 163. But, mutations can be produced in these genes which lead to a genetic disorder known as α-thalassemia causing low blood quality and quantity production4. Moreover, the alteration in α-globin chain disturbs the blood protein and ferrous ion regulation5.
Approximately; all of the mutation types in α-thalassemia are occurred by removal in the DNA sequence, which affects the α-globin chain and consequently malfunction in protein synthesis6. Unluckily, thalassemia research is commonly stopped until the disorder recognition through DNA sequence alteration which provides detailed information about the mechanism of mutation fault. Currently, many researchers utilize the bioinformatics and bio-modeling to predict about DNA alteration7.
Accordingly, Niken Satuti, Nailil Husna and Immanuel Sanka conducted a research to examine the impact of fractional deletion in α-globin gene; affecting the mechanisms to produce functional α-globin chain in α-thalassemia cases. In this experiment, scientists selected and processed the three mutant genes from gene bank. After that, analysis was conducted in deleted sequences determination, mRNA sequences, protein structures and protein chains interaction to form hemoglobin by SWISS MODEL, CHIMERA and SABLE Polyview 2D.
Scientists noted 76 amino acids which were deleted in one mutant α-globin gene (V00516.1). Moreover, the mutation influenced every mechanism of the α-globin chain production and affected protein conformation by losing over half the helical chains and ultimately this phenomenon reduced the ability of protein synthesis. Conclusively, this analysis exhibited that the protein produced by the α-globin gene with incomplete deletion can’t perform and unable to form hemoglobin.
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17 November, 2019