ALUND osteogenesis imperfecta rough draft

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1 Osteogenesis Imperfect Article Autumn Lund Grand Canyon University: BIO 457 – WF700 Professor Peientak April 2, 2023

2 Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is an autosomal dominant inherited disease that affects connective tissue within the body by the abnormal synthesis or processing of type I collagen. There are 8 types of osteogenesis imperfecta, for this paper, types I and II will be discussed. Other types of the disease have symptoms that fall between the two that result in differing classification. This disease, depending on the type, can be seen before birth or after birth and is characterized by the susceptibility to bone fractures and the decreased bone density. In this article, a description of the disease, genetic and molecular basis of the disease, as well as the treatment and prognosis of the disease will be discussed (Subramanian & Viswanathan, 2020). Description Osteogenesis imperfecta was first documented by a Professor of Anatomy, Pathological Anatomy, and Zoology at the University of Amsterdam by the name of Willem Vrolik. He described this disease in his Handbook of Pathological Anatomy (1842-1844) about a newborn who had numerous fractures and had lived for three days (Baljet, 2002). This case described would later be reexamined and re-diagnosed as osteogenesis imperfects type II, due to the condition of the bones and the poor mineralization of them. Originally called Vrolik’s syndrome because of his discovery, it was later termed as Osteogenesis imperfecta and often called brittle bones disease in layman terms. Clinical forms of this disease are characterized into eight types; type I is the mildest and most common form of osteogenesis imperfecta and type II is the most severe form. The other six types have symptoms that fall between both of these two types, which then results in the

3 different types to be more precisely diagnosed (U.S. Department of Health and Human Services, 2022). As there are many types of osteogenesis imperfecta, the focus of the article will be around OI type I and OI type II. The OMIM number for osteogenesis imperfecta type I is 166200 (McKusick, 2023). The OMIM number for osteogenesis imperfecta type II is #166210 (McKusick, 2023). Osteogenesis imperfecta is an autosomal dominantly inherited disease characterized by the susceptibility of bone fractures and decreased bone density. Through many resources, the effects of osteogenesis in different regions, among different races, ages, and genders is no different. Osteogenesis imperfecta affects all genders, races, and ethnic groups equally and in the various types of osteogenesis imperfect, it occurs in approximately 1 of 15,000-20,000 births (Forlino et al., 2011). The signs of osteogenesis imperfecta can be seen from birth, sometimes even before birth. A possible exception to this would be the result of deafness, which is usually seen to occur near adulthood. For all people with osteogenesis imperfecta have weak or brittle bones and because of this, some people may only experience a few broken bones throughout their lives while others will experience hundreds of broken bones. Patients with osteogenesis imperfecta type I often have broken bones from mild to moderate trauma, with most of these breaks occurring before puberty (Marini et al., 2017). With osteogenesis imperfecta type I dealing with a lower type I collagen level, bone deformed are mild to none and their teeth strength and color may change as well. For patients with osteogenesis imperfeceta type II, the signs and symptoms are more severe and is more likely to be the cause of death at birth or shortly after. This is due to the inability to breathe because of the underdeveloped lungs and severe bone deformities. It is common for those with osteogenesis imperfecta type II to have numerous broken bones that

4 develop before birth while they are still in the womb. These causes are due to a mutation within the collagen protein (Marom et al., 2020). Genetic Basis Osteogenesis imperfecta is a result of mutations in the genes involved in the production of type I collagen: COL1A1 and COL1A2. Type I collagen is the most common collagen protein in bone, skin, and connective tissues which provide strength and structure to the body (Marom et al., 2020). The structure of type I collagen is a triple helix which comprises of two alpha-I chains and one alpha-II chain. The COL1A1 gene (collagen type I alpha I chain) is located on the long arm of chromosome 17 in the 17q21.33 region. COL1A1 gene size is that of 51 exons which is the same as about 1464 amino acids. This gene is used to encode the pro-alpha I chains of type I collagen (U.S. National Library of Medicine, 2023). The COL1A2 gene (collagen type I alpha II chain) is located on chromosome 7 in the 7q21.3 region. COL1A2 gene size is 52 exons which are approximately 1366 amino acids. This gene encodes the pro-alpha II chain of type I collagen (U.S. National Library of Medicine, 2023). Mutations of the COL1A1 gene mostly result in a quantitative decrease in the amount of structurally normal type I collagen. Deletion mutation in the COL1A1 gene involves the deletion of segments of DNA from the gene and results in an abnormally shortened pro-alpha I chain. Most common is a missense mutation to the COL1A1 gene. The amino acid sequence is altered in the pro-alpha I chain, and is usually the replacement of the amino acid Glycine with that of a different one. Sometimes these substitutions result in an alteration to one end of the protein chain called C-propeptide (Marom et al., 2020). Deletion mutation in the COL1A2 gene involves the deletion of pieces of the gene resulting in a pro-alpha II chain that is missing critical regions.

5 Same as the COL1A1 gene, the COL1A2 gene can also have missense mutation which can alter one end of the protein chain (Marom et al., 2020). Osteogenesis imperfecta can be inherited as a dominant, recessive, or X0linked disorder, however, most often it is a dominant disease caused by pathogenic variants of either the COL1A1 gene or COL1A2 gene (Marom et al., 2020). The autosomal dominant inheritance pattern is where one copy of the altered gene is in each cell which is sufficient to cause osteogenesis imperfecta. Many who have osteogenesis imperfect type I inherit the mutation from a parent who has the disorder. Infants with a more severe type, osteogenesis imperfects type II, have no history of the condition within their families. In these cases, osteogenesis is caused by new mutations in the COL1A1 or COL1A2 genes (U.S. National Library of Medicine, 2019). Molecular Basis Overall, osteogenesis imperfecta (all types) occur due to a genetic mutation that affects the synthesis and/or processing of type I collagen protein. These changes to type I collagen then affect the bones, skin, and connective tissues of the affected individuals. For osteogenesis imperfecta types I and II, the two genes that have OI as an outcome are COL1A1 and COL1A2 which affect the protein called type I collagen. This is the main protein of focus because it makes up to 90% of the body’s collagen. It is found mostly in the skin, tendons, teeth, bones, ligaments, and between organs. Type I collagen is made up of two alpha-1 (I) chains encoded by COL1A1 and one alpha-2 (I) chain encoded by COL1A2. It is also densely packed and used to provide structure to the body (Gelse et al., 2003). Mutations of the COL1A1 gene are responsible for most osteogenesis imperfecta type I cases. These mutations reduce the production of pro-alpha I chains and with fewer pro-alpha I

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