A Review Article: Categorization, Advancement and Obstacles of Genetic factors and types of Spinal Muscular Degeneration

Authors

  • Marwa Abbas Abdulrazzak Kubba Departments of Biology, Alrasheed University College, IRAQ

Keywords:

neurons, treatment, therapies, Spinal muscular atrophies

Abstract

SMA (Spinal muscular atrophies) are category of hereditary inflammation in the funiculars and lower brain stem, tissue fatigue, and degeneration characterized by motor neuron failure. The analytic and genetic phenotypes incorporate a diverse continuum distinguished depending on age of onset, tissue participation arrangement, and inheritance arrangement. Rapid advancements in genetic science have expedite the discovery of causative genes over the past few years, and provide significant access in awareness the biochemical and neurological basis of Spinal muscular atrophies and insights into the motor neurons' selective deficiency. Popular path physiological topics include Ribonucleic Acid metabolism and splicing abnormalities, axonal transmission, and motor neurons' advancement and communication. These also collectively revealed possible innovative prevention methods and comprehensive attempts are what benefits does the company offer? Although a range of promising therapeutic therapies for Spinal muscular atrophies is emerging, it is essential to identify therapeutic windows and establish responsive and appropriate biomarkers to promote future analytic trial success. This research offers a description of Spinal muscular atrophies' logical manifestations and genetics. It discusses recent advancements in learning—mechanisms for the pathogenesis of inflammation and new treatment methods.

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References

Ramser J, Ahearn ME, Lenski C, et al. Rare missense and synon- ymous variants in UBE1 are associated with X-linked infantile spinal muscular degeneration. Am J Hum Genet 2008;82:188-193.

Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999;23:333-337.

Tarnopolsky MA, Bourgeois JM, Fu MH, et al. Novel SCO2 mutation (G1521A) presenting as a spinal muscular degeneration type 1 phenotype. Am J Med Genet A 2004;125A:310-314.

Salviati L, Sacconi S, Rasalan MM, et al. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig- Hoffmann disease. Arch Neurol 2002;59:862–865.

Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993;15:411–422.

Renbaum P, Kellerman E, Jaron R, et al. Spinal muscular degeneration with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 2009;85:281-289.

Wan J, Yourshaw M, Mamsa H, et al. Mutations in the Ribonucleic Acid exosome component gene EXOSC3 cause pontocerebellar hypo- plasia and spinal motor neuron degeneration. Nat Genet 2012;44: 704-708.

Pearn J. Incidence, pervasiveness, and gene frequency studies of chronic childhood spinal muscular degeneration. J Med Genet 1978;15: 409-413.

Russman BS. Spinal muscular degeneration: analytic classification and disease heterogeneity. J Child Neurol 2007;22:946-951.

Dressman D, Ahearn ME, Yariz KO, et al. X-linked infantile spinal muscular degeneration: analytic definition and molecular mapping. Genet Med 2007;9:52-60.

Namavar Y, Barth PG, Kasher PR, et al. Analytic, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011;134: 143-156.

Simonati A, Cassandrini D, Bazan D, Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol 2011;121:671-673.

Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal mus- cular degeneration with respiratory distress type 1. Nat Genet 2001;29: 75-77.

Grohmann K, Varon R, Stolz P, et al. Infantile spinal muscular degeneration with respiratory distress type 1 (Spinal muscular atrophiesrespiratory distress1). Ann Neurol 2003;54:719-724.

Butterfield RJ, Stevenson TJ, Xing L, et al. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology 2014;82:1322-1330.

Messina MF, Messina S, Gaeta M, et al. Infantile spinal muscular degeneration with respiratory distress type 1 (Spinal muscular atrophiesrespiratory distress 1): an atypical phenotype and review of the literature. Eur J Paediatr Neurol 2012;16:90-94.

Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J. Chronic proximal spinal muscular degeneration of childhood and adolescence: problems of classification and genetic counselling. J Med Genet 1985;22:350-353.

Maystadt I, Rezsohazy R, Barkats M, et al. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autoso- mal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 2007;81:67-76.

La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular degeneration. Nature 1991;352:77-79.

Harding AE. Inherited neuronal degeneration and degeneration predom- inantly of lower motor neurons. In: Peripheral neuropathy. Dyck, PJ, Thomas, PK, Griffin, JW (eds). W. B. Saunders Company, Philadelphia, 1993, pp. 1051-1064.

Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-606.

Mandich P, Grandis M, Varese A, et al. Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene. J Child Neurol 2010;25:107-109.

Synofzik M, Martinez-Carrera LA, Lindig T, Schols L, Wirth B. Dominant spinal muscular degeneration due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 2014;85:590- 592.

Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular degeneration and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.

Rudnik-Schoneborn S, Botzenhart E, Eggermann T, et al. Mutations of the Lamin A/C gene can mimic autosomal dominant proximal spinal muscular degeneration. Neurogenetics 2007;8:137-142.

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Published

2021-03-31

How to Cite

Kubba, M. A. A. . (2021). A Review Article: Categorization, Advancement and Obstacles of Genetic factors and types of Spinal Muscular Degeneration. International Journal for Research in Applied Sciences and Biotechnology, 8(2), 29–37. Retrieved from https://ijrasb.com/index.php/ijrasb/article/view/39

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