THE EFFECT OF BCMO1 (BCO1) GENE MUTATION ON EYE PHOTORECEPTORS – GAME EXCHANGER FOR VITAMIN A SUPPLEMENT - REVIEW STUDY
Hassan Sadek Darwish*, Yara Shaalan, Badriya Alrahbi, Al-Muhanad Al-Shueili and Manohar Noone
ABSTRACT
Introduction: Photoreceptors located in the retina of the eye. These cells contain large amounts of a membranes that consist of photosynthetic pigment rhodopsin. Vitamin A is a fat-soluble compound that plays an important role in maintaining eye's organs. The most common clinical sign of vitamin A deficiency is xerophthalmia, which develops after a decrease in plasma retinol and depletion of ocular vitamin A reserves. The first sign of vitamin A deficiency is night blindness, or inability to see in dim light or darkness as a result of low levels of rhodopsin in the retina. Dry conjunctiva also affects the cornea and can eventually lead to permanent blindness. BCO1 gene is very important for the conversion of beta -carotene into provitamin. Genetic variant in the BCO1 gene cause varying amounts of the enzyme to be produced and cause a large difference in the amount of vitamin A produced from dietary beta- carotene. Method: Using NCBI databases, specifically GenBank to analyze DNA and genomic sequences of BCO1 gene codons. The GenBank file format was useful for extracting gene's accession number, amino acid numbers, numbers of introns and exons, and nucleotide length. The FASTA format also used in retrieving nucleotide sequences and obtaining protein function of that gene. At this stage four article were analyzed to conclude the effect of the BCO1 gene on eye integrity and vision. PubMed was helpful to get those articles. Result: NCBI analysis showed BCO1 gene is located on chromosome 16 and contains 11 exons. BCO1 is considered linear DNA and is responsible for the metabolism form vitamin A. Conclusion: Adequate supplementation of vitamin A may be recommended for increasing the activity of retinol dehydrogenase to make the eye function properly.
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