Review Article: Defective Genes Cause Disease
Keywords:
genes, defective, mutation, disorder, diseaseAbstract
Variation in DNA, and genes to a lesser or greater extent, can play an important role in most diseases; that is because this variation in will reflect and affect the function of DNA, and genes (combined genes and DNA or separately). This can be affected by environment, life style, as well as the inheriting from parents and previous generations. All these factors can contribute in human diseases. There are different alterations in genes, like imbalance and inequality in chromosomes, disorder in gene (deficiency in gene, which could be complex or single disorder), and cancer. In the last decades, scientists were focus on medicine and genetics; they pay an extensive attention to reach better understanding about diseases and their causes, to serve patients in better way. This tendency and preparations were focused on genes and the changes that may occur, and the sequences of these changes on health. In this regard scientists studied the epigenetic diseases as well, and the application of genes in therapy. Implementation of these concepts in labs and clinics required full understanding of genetic alterations.
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Torgerson T, Ochs H. Chapter 3 - Genetics of Primary Immune Deficiencies. Stiehm's Immune Deficiencies. 2014; 73-81. https://doi.org/10.1016/B978-0-12-405546-9.00003-0
Levine F. Basic Genetic Principles. Fetal and Neonatal Physiology (Fifth Edition), 2017; 1: 1-13. https://doi.org/10.1016/B978-0-323-35214-7.00001-9
Cole WG, Mäkitie O. Chapter 54 - Primary Disorders of Connective Tissue. Textbook of Pediatric Rheumatology (Seventh Edition). 2016: 706-719.e3. https://doi.org/10.1016/B978-0-323-24145-8.00054-5
Bull, M. J., & the Committee on Genetics. (2011). Health supervision for children with Down syndrome. Pediatrics, 128, 393–406.
Down syndrome. (2012). In A.D.A.M. Medical Encyclopedia. Retrieved June 11, 2012, from https://medlineplus.gov/ency/article/000997.htm
Ulrich, D. A., Burghardt, A. R., Lloyd, M., Tiernan, C., & Hornyak, J. R. (2011) Physical activity benefits of learning to ride a two-wheel bicycle for children with Down syndrome: A randomized trial. Physical Therapy, 91, 1463–1477.
https://genetics.thetech.org/about-genetics/mutations-and-disease
https://my.clevelandclinic.org/health/diseases/15612-mitochondrial-diseases
Martin, G. E., Klusek, J., Estigarribia, B., & Roberts, J. E. (2009). Language characteristics of individuals with Down syndrome. Topics in Language Disorders, 29(2), 112–132.
Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening: Tidsskrift for Praktisk Medicin, NY Raekke. 133 (3): 290–94
Sheets KB, Crissman BG, Feist CD, et al. (October 2011). "Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors". J Genet Couns. 20 (5): 432–41. doi:10.1007/s10897-011-9375-8. PMID 21618060
Jackson M, Marks L, May GHW, Wilson JB. The genetic basis of disease. Essays in Biochemistry (2018) 62 643–723. https://doi.org/10.1042/EBC20170053
Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening: Tidsskrift for Praktisk Medicin, NY Raekke. 133 (3): 290–94.
Sheets KB, Crissman BG, Feist CD, et al. (October 2011). "Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors". J Genet Couns. 20 (5): 432–41. doi:10.1007/s10897-011-9375-8. PMID 21618060
Murphy, E. (2018) Forensic DNA typing. Annu. Rev. Criminol. 1, 497–515, https://doi.org/10.1146/annurev-criminol-032317-092127
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J. et al. (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424, https://doi.org/10.1038/gim.2015.30
Hanahan, D. and Weinberg, R.A. (2011) Hallmarks of cancer: the next generation. Cell 144: 646–674, https://doi.org/10.1016/j.cell.2011.02.013
Pereira, B. (2016) The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes. Nat. Commun. 7, 11479, https://doi.org/10.1038/ncomms11479.
Chaturvedi S, Singh AK, Keshari AK, et al. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach. Scientifica. 2016; 2016: Article ID: 9828672. http://dx.doi.org/10.1155/2016/9828672
Bonora, G. and Disteche, C.M. (2017) Structural aspects of the inactive X chromosome. Phil. Trans. R. Soc. B Biol. Sci. 372, 20160357, https://doi.org/10.1098/rstb.2016.0357
Fiot, E., Zenaty, D., Boizeau, P., Haignere, J., Dos Santos, S. and Leger, J (2016) X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome. Eur. J. Endocrinol. 174, 281–288, https://doi.org/10.1530/EJE-15-1000.
Jackson M, Marks L, May GHW, Wilson JB. The genetic basis of disease. Essays in Biochemistry (2018) 62 643–723. https://doi.org/10.1042/EBC20170053
Stevant, I., Papaioannour, M.D. and Nef, S. (2018) A brief history of sex determination. Mol. Cell. Endocrinol., https://doi.org/10.1016/j.mce.2018.04.004
Tanaka, S.S. and Nishinakamura, R. (2014) Regulation of male sex determination: genital ridge formation and Sry activation in mice. Cell. Mol. Life Sci. 71, 4781–4802, https://doi.org/10.1007/s00018-014-1703-3
Martiniano, S. L., Sagel, S. D., & Zemanick, E. T. (2016). Cystic fibrosis: A model system for precision medicine. Current Opinion in Pediatrics, 28(3), 312–317. https://doi.org/10.1097/MOP.0000000000000351
Nopoulos, P.C. (2016) Huntington disease: a single-gene degenerative disorder of the striatum. Dialogues Clin. Neurosci. 18, 91–98.
Ornitz, D.M. and Legeai-Mallet, L. (2017) Achondroplasia: development, pathogenesis, and therapy. Dev. Dyn. 246, 291–309, https://doi.org/10.1002/dvdy.24479
Schmidt, B.Z., Haaf, J.B., Leal, T. and Noel, S. (2016) Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives. Clin. Pharmacol. 8:, 127–140
Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, et al. 2014. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol. Med. 6:1016–27
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, et al. 2012. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90:1079–87
Ghezzi D, Saada A, D’Adamo P, Fernandez-Vizarra E, Gasparini P, et al. 2008. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 83:415–23.
Girardet A, Viart V, Plaza S, Daina G, De Rycke M, et al. 2016. The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. Eur. J. Hum. Genet. 24:469–78
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