Abstract
Genetic mutations are becoming more deleterious day by day. Mutations of Genes named FBN1, AKT1, LMNA result specific protein malfunction that in turn commonly cause Marfan syndrome, Proteus syndrome, and Progeria, respectively. Articles about these conditions have been reviewed in PubMed and Google scholar with a view to finding relevant clinical features. Precise keywords have been used in search for systemic involvement of FBN1, AKT1, and LMNA gene mutations. It has been found that Marfan syndrome, Proteus syndrome, and Progeria commonly affected musculo-skeletal system, cardiovascular system, eye, and nervous system. Not only all of them shared identical systemic involvement, but also caused several very specific anomalies in various parts of the body. In spite of having some individual signs and symptoms, the mutual manifestations were worth mentioning. Moreover, all the features of the mutations of all three responsible genes had been co-related and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or in their corresponding proteins that result in the same presentations. This study may progress vision of knowledge regarding risk factors, patho-physiology, and management of these conditions, and relation to other mutations.
Highlights
The haploid human genome consists of 3 billion nucleotides but changes in one single base pair can result in dramatic physiological malfunctions.[1]
Mutation is common in all types of organisms which is classified in three types; deleterious mutation with harmful effect upon host, neutral mutation with no effect, and advantageous mutation for welfare of the organism
In Progeria caused by LMNA mutation, skeletal defects include severe osteolysis,[39] hypoplasia, dysplasia, and pathological fractures
Summary
The haploid human genome consists of 3 billion nucleotides but changes in one single base pair can result in dramatic physiological malfunctions.[1]. Overgrowth of muscle and abnormally large muscle group with asymmetric muscle development are found.[36] Some smooth Muscle shows hyperplasia.[37,38] In Progeria caused by LMNA mutation, skeletal defects include severe osteolysis,[39] hypoplasia, dysplasia, and pathological fractures.
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