Review on: Osteogenesis Imperfecta
Abstract
A rare congenital illness known as osteogenesis imperfecta (OI) can range widely in severity and is marked by additional, variable extra-skeletal symptoms along with increased bone fragility and skeletal deformities. Here, we provide a summary of the pathophysiological underpinnings, genetic heterogeneity, and current therapy options for OI-related bone fragility disorders. Mutations in the two collagen type I genes are the cause of the most prevalent type of OI. While missense mutations mostly cause structural changes in the collagen protein and result in a more severe phenotype, stop mutations typically result in decreased collagen quantity and a milder phenotype. prescription drugs.
Keywords:
Osteogenesis imperfecta, Pathophysiology, Genetic heterogeneity, Therapy, Bisphosphonates
References
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16. Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, Neel MD, McCarville ME, Orchard PJ, Pyeritz RE, Brenner MK. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood, The Journal of the American Society of Hematology. 2001 Mar 1;97(5):1227-31.
17. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. Journal of Bone and Mineral Research. 2002 Jan 1;17(1):30-8.
18. KM K. Brittle IV mouse model for osteogenesis imperfect IV demonstrates postpubertal adaptations to improve whole bone strength. J Bone Miner Res. 2004;19:614-22.
19. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304.
20. Ravella S, Angel M, Subramanian H, Thangavel N, Namballa M, Lokesh D, Mishra AK, Nagaraju GV. Navigating the Future of Cancer Diagnosis: A Comprehensive Review of Novel Approaches for Community-Based Treatment. future.;1:6.
21. Morgan JA, Marcus PS. Prenatal diagnosis and management of intrauterine fracture. Obstetrical & gynecological survey. 2010 Apr 1;65(4):249-59.
22. Viora E, Sciarrone A, Bastonero S, Errante G, Campogrande M, Botta G, Franceschini P. Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta. American journal of medical genetics. 2002 May 15;109(4):336-7.
23. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. PMID: 21438135; PMCID: PMC3166781.
24. Zhou X, Zhang Z, Feng JQ, Dusevich VM, Sinha K, Zhang H, Darnay BG, de Crombrugghe B. Multiple functions of Osterix are required for bone growth and homeostasis in postnatal mice. Proceedings of the National Academy of Sciences. 2010 Jul 20;107(29):12919-24.
2. Bachrach LK. Consensus and controversy regarding osteoporosis in the pediatric population. Endocrine Practice. 2007 Jan 1;13(5):513-20.
3. Reid IR, Brown JP, Burckhardt P, Horowitz Z, Richardson P, Trechsel U, Widmer A, Devogelaer JP, Kaufman JM, Jaeger P, Body JJ. Intravenous zoledronic acid in postmenopausal women with low bone mineral density. New England Journal of Medicine. 2002 Feb 28;346(9):653-61.
4. Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. Pediatrics. 2003 May 1;111(5):1030-6.
5. Vijayalakshmi, P; Girish, Ch; Mentham, Ramesh; Rao, Chandu Babu; Nama, Sreekanth; 2014. A REVIEW ON ALZHEIMER’S DISEASE. International journal of pharma and biosciences.IJPBS |Volume 4| Issue 2|APR-JUN|2014|19-27 https://www.ijpbs.com/ijpbsadmin/upload/ijpbs_536f304fa5e38.pdf
6. Sakkers R, Kok D, Engelbert R, van Dongen A, Jansen M, Pruijs H, Verbout AB, Schweitzer D, Uiterwaal C. Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. The Lancet. 2004 May 1;363(9419):1427-31.
7. Shaik S, Suryaprabha M, Baburao C, Sreekanth N, Irfan P, Harshavardhan P, Pisipati SV. Featal alcohol syndrome. International Journal of Research in Pharmacy and Chemistry. 2012;2(2):371-5.
8. Dey B, Hwisa NT, Khalf AM, Mitra A, Katakam P, Rao CB. Pharmaco-epidemiological Studies on Self Medication and Drug Utilization Pattern in Chronic Diseases via Prescription Auditing. International Journal of Scientific Research in Knowledge. 2013 Nov 1;1(11):464.
9. De Coster PJ, Cornelissen M, De Paepe A, Martens LC, Vral A. Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. Archives of oral biology. 2007 Feb 1;52(2):101-9.
10. Kumar KR, Nagaraju GV, Subrahmanyam SN, Nagarani K, Shareef S, Tennygilphin M, Namballa M. Assessment on Elements Involving the Academic Performance among Pharmacy Students: A Cross-Sectional Observational Study. Int J Cur Res Rev| Vol. 2021 Dec;13(23):141.
11. Biran Y, Masters CL, Barnham KJ, Bush AI, Adlard PA. Pharmacotherapeutic targets in Alzheimer's disease. J Cell Mol Med. 2009 Jan;13(1):61-86. doi: 10.1111/j.1582-4934.2008.00595.x. Epub 2008 Nov 18. PMID: 19040415; PMCID: PMC3823037.
12. Adami S, Gatti D, Colapietro F, Fracassi E, Braga V, Rossini M, Tatò L. Intravenous neridronate in adults with osteogenesis imperfecta. Journal of Bone and Mineral Research. 2003 Jan 1;18(1):126-30.
13. Fisher JE, Rogers MJ, Halasy JM, Luckman SP, Hughes DE, Masarachia PJ, Wesolowski G, Russell RG, Rodan GA, Reszka AA. Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro. Proceedings of the National Academy of Sciences. 1999 Jan 5;96(1):133-8.
14. Nama S, Awen BZ, Chandu BR, Kagga M. A novel validated RP-HPLC method development for the estimation of rimonabant hydrochloride in bulk and tablet dosage forms. African Journal of Pharmacy and Pharmacology. 2011 Feb 1;5(2):207-13.
15. Dalgleish R. The human type I collagen mutation database. Nucleic acids research. 1997 Jan 1;25(1):181-7.
16. Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, Neel MD, McCarville ME, Orchard PJ, Pyeritz RE, Brenner MK. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood, The Journal of the American Society of Hematology. 2001 Mar 1;97(5):1227-31.
17. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. Journal of Bone and Mineral Research. 2002 Jan 1;17(1):30-8.
18. KM K. Brittle IV mouse model for osteogenesis imperfect IV demonstrates postpubertal adaptations to improve whole bone strength. J Bone Miner Res. 2004;19:614-22.
19. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304.
20. Ravella S, Angel M, Subramanian H, Thangavel N, Namballa M, Lokesh D, Mishra AK, Nagaraju GV. Navigating the Future of Cancer Diagnosis: A Comprehensive Review of Novel Approaches for Community-Based Treatment. future.;1:6.
21. Morgan JA, Marcus PS. Prenatal diagnosis and management of intrauterine fracture. Obstetrical & gynecological survey. 2010 Apr 1;65(4):249-59.
22. Viora E, Sciarrone A, Bastonero S, Errante G, Campogrande M, Botta G, Franceschini P. Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta. American journal of medical genetics. 2002 May 15;109(4):336-7.
23. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. PMID: 21438135; PMCID: PMC3166781.
24. Zhou X, Zhang Z, Feng JQ, Dusevich VM, Sinha K, Zhang H, Darnay BG, de Crombrugghe B. Multiple functions of Osterix are required for bone growth and homeostasis in postnatal mice. Proceedings of the National Academy of Sciences. 2010 Jul 20;107(29):12919-24.
Published
31/08/2023
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Megavath, V. N. (2023). Review on: Osteogenesis Imperfecta. Journal of Case Studies and Case Reports, 2(2), 28-32. https://doi.org/10.37022/jcscr.v2i2.603
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