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Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler

Yıl 2023, Cilt: 5 Sayı: 2, 275 - 287, 26.08.2023

Öz

Spinal musküler atrofi (SMA), kranial sinir motor çekirdekleri ve omurilikteki ön boynuz motor nöronların kaybının yol açtığı ilerleyici kas güçsüzlüğü ve atrofisi ile seyreden kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir ve Survival Motor Nöron 1 (SMN1, MIM *600354) genindeki mutasyonlar sonucu ortaya çıkar. Dünya genelinde SMA görülme sıklığı 10 000 canlı doğumda ~1-3, SMN1 gen mutasyonlarının taşıyıcı sıklığı ise ~1/50’dir. SMA, klinik şiddeti ve hastalık başlangıç yaşına göre beş ayrı fenotip olarak olarak sınıflandırılır. Temel klinik bulgu kas güçsüzlüğü ve atrofisidir. Ülkemizde Sağlık Bakanlığı verilerine göre yaklaşık 3000 SMA hastası izlenmektedir. SMA’nın kalıtımından sorumlu SMN1 geni, 5. kromozomun uzun kolunda, 5q13.2 bölgesinde yer almaktadır. Son on yılda, SMA tanı ve tedavisinde çığır açıcı gelişmeler yaşanmış, erken tanı ve tedavinin hastalık seyrini değiştirdiği izlenmiştir. Erken tanıya yönelik ülkemizde yenidoğan ve evlilik öncesi SMA tarama programları uygulanmaktadır. Günümüzde SMA tedavisinde birçok preklinik ve klinik çalışma halen devam etmekte ve klinik yararlanımı artırmaya yönelik kombine tedavi stratejileri denenmektedir.

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  • Andrews, J. A., Miller, T. M., Vijayakumar, V., Stoltz, R., James, J. K., Meng, L., Wolff, A. A., & Malik, F. I. (2018). CK-2127107 amplifies skeletal muscle response to nerve activation in humans. Muscle & Nerve, 57(5), 729-734. https://doi.org/10.1002/mus.26017
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Spinal Muscular Atrophy: Current Advances in Diagnosis, Screening and Treatment

Yıl 2023, Cilt: 5 Sayı: 2, 275 - 287, 26.08.2023

Öz

Proje Numarası

bulunmamaktadır

Kaynakça

  • Ando, S., Funato, M., Ohuchi, K., Inagaki, S., Sato, A., Seki, J., Kawase, C., Saito, T., Nishio, H., Nakamura, S., Shimazawa, M., Kaneko, H., & Hara, H. (2019). The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model. Neurochemical Research, 44(7), 1773-1779. https://doi.org/10.1007/s11064-019-02814-4
  • Ando, S., Funato, M., Ohuchi, K., Kameyama, T., Inagaki, S., Seki, J., Kawase, C., Tsuruma, K., Shimazawa, M., Kaneko, H., & Hara, H. (2017). Edaravone is a candidate agent for spinal muscular atrophy: In vitro analysis using a human induced pluripotent stem cells-derived disease model. European Journal of Pharmacology, 814, 161-168. https://doi.org/10.1016/j.ejphar.2017.08.005
  • Andrews, J. A., Miller, T. M., Vijayakumar, V., Stoltz, R., James, J. K., Meng, L., Wolff, A. A., & Malik, F. I. (2018). CK-2127107 amplifies skeletal muscle response to nerve activation in humans. Muscle & Nerve, 57(5), 729-734. https://doi.org/10.1002/mus.26017
  • Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., Munnich, A., & Melki, J. (1996). Structure and Organization of the Human Survival Motor Neurone (SMN) Gene. Genomics, 32(3), 479-482. https://doi.org/10.1006/geno.1996.0147
  • Duque, S. I., Arnold, W. D., Odermatt, P., Li, X., Porensky, P. N., Schmelzer, L., Meyer, K., Kolb, S. J., Schümperli, D., Kaspar, B. K., & Burghes, A. H. M. (2015). A large animal model of spinal muscular atrophy and correction of phenotype. Annals of Neurology, 77(3), 399-414. https://doi.org/10.1002/ana.24332
  • EMA. (2017). First medicine for spinal muscular atrophy. EMA. https://www.ema.europa.eu/en/news/first-medicine-spinal-muscular-atrophy
  • EMA. (2020). EU/3/12/976: Orphan designation for the treatment of 5q spinal muscular atrophy. The European Medicines Agency (EMA). https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu312976
  • EMA. (2021). First oral treatment for spinal muscular atrophy (SMA) recommended for approval. EMA. https://www.ema.europa.eu/en/news/first-oral-treatment-spinal-muscular-atrophy-sma-recommended-approval
  • FDA. (2016). FDA approves first drug for spinal muscular atrophy. U.S. Food and Drug Administration (FDA). https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-spinal-muscular-atrophy
  • FDA. (2019). FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality. FDA. https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease
  • FDA. (2022). FDA Approves Oral Treatment for Spinal Muscular Atrophy. FDA. https://www.fda.gov/drugs/new-drugs-fda-cders-new-molecular-entities-and-new-therapeutic-biological-products/new-drug-therapy-approvals-2022
  • Finkel, R. S. (2013). Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. Neuromuscular Disorders, 23(2), 112-115. https://doi.org/10.1016/j.nmd.2012.09.006
  • Finkel, R. S., McDermott, M. P., Kaufmann, P., Darras, B. T., Chung, W. K., Sproule, D. M., Kang, P. B., Foley, A. R., Yang, M. L., Martens, W. B., Oskoui, M., Glanzman, A. M., Flickinger, J., Montes, J., Dunaway, S., O’Hagen, J., Quigley, J., Riley, S., Benton, M., … De Vivo, D. C. (2014). Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology, 83(9), 810-817. https://doi.org/10.1212/WNL.0000000000000741
  • Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., & Kaspar, B. K. (2010). RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nature Biotechnology, 28(3), 271-274. https://doi.org/10.1038/nbt.1610
  • Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Raschke, H., Zerres, K., & Wirth, B. (1997). Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA). Human Molecular Genetics, 6(5), 821-825. https://doi.org/10.1093/hmg/6.5.821
  • Hamilton, G., & Gillingwater, T. H. (2013). Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine, 19(1), 40-50. https://doi.org/10.1016/j.molmed.2012.11.002
  • Juliano, R. L., Dixit, V. R., Kang, H., Kim, T. Y., Miyamoto, Y., & Xu, D. (2005). Epigenetic manipulation of gene expression. Journal of Cell Biology, 169(6), 847-857. https://doi.org/10.1083/jcb.200501053
  • Keinath, M. C., Prior, D. E., & Prior, T. W. (2021). Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance. The Application of Clinical Genetics, Volume 14, 11-25. https://doi.org/10.2147/TACG.S239603
  • Kolb, S. J., Battle, D. J., & Dreyfuss, G. (2007). Molecular Functions of the SMN Complex. Journal of Child Neurology, 22(8), 990-994. https://doi.org/10.1177/0883073807305666
  • Kolb, S. J., Coffey, C. S., Yankey, J. W., Krosschell, K., Arnold, W. D., Rutkove, S. B., Swoboda, K. J., Reyna, S. P., Sakonju, A., Darras, B. T., Shell, R., Kuntz, N., Castro, D., Parsons, J., Connolly, A. M., Chiriboga, C. A., McDonald, C., Burnette, W. B., Werner, K., … Kissel, J. T. (2017). Natural history of infantile‐onset spinal muscular atrophy. Annals of Neurology, 82(6), 883-891. https://doi.org/10.1002/ana.25101
  • Kolb, S. J., & Kissel, J. T. (2015). Spinal Muscular Atrophy. Neurologic Clinics, 33(4), 831-846. https://doi.org/10.1016/j.ncl.2015.07.004
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  • Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A., & Melki, J. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80(1), 155-165. https://doi.org/10.1016/0092-8674(95)90460-3
  • Long, K. K., O’Shea, K. M., Khairallah, R. J., Howell, K., Paushkin, S., Chen, K. S., Cote, S. M., Webster, M. T., Stains, J. P., Treece, E., Buckler, A., & Donovan, A. (2019). Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy. Human Molecular Genetics, 28(7), 1076-1089. https://doi.org/10.1093/hmg/ddy382
  • Lorson, C. L., Hahnen, E., Androphy, E. J., & Wirth, B. (1999). A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences, 96(11), 6307-6311. https://doi.org/10.1073/pnas.96.11.6307 Mendonça, R. de H., Matsui, C., Polido, G. J., Silva, A. M. S., Kulikowski, L., Torchio Dias, A., Zanardo, E. A., Solla, D. J. F., Gurgel-Giannetti, J., Moura, A. C. M. L. de, Sampaio, G. P. C., Oliveira, A. S. B., Souza, P. V. S. de, Pinto, W. B. V. de R., Gonçalves, E. A., Farias, I. B., Nardes, F., Araújo, A. P. de Q. C., Marques, W., … Zanoteli, E. (2020). Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology Genetics, 6(5), e505. https://doi.org/10.1212/NXG.0000000000000505
  • Merlini, L., Solari, A., Vita, G., Bertini, E., Minetti, C., Mongini, T., Mazzoni, E., Angelini, C., & Morandi, L. (2003). Role of Gabapentin in Spinal Muscular Atrophy. Journal of Child Neurology, 18(8), 537-541. https://doi.org/10.1177/08830738030180080501
  • Meyer, K., Ferraiuolo, L., Schmelzer, L., Braun, L., McGovern, V., Likhite, S., Michels, O., Govoni, A., Fitzgerald, J., Morales, P., Foust, K. D., Mendell, J. R., Burghes, A. H. M., & Kaspar, B. K. (2015). Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates. Molecular Therapy, 23(3), 477-487. https://doi.org/10.1038/mt.2014.210
  • Miller, R. G., Moore, D. H., Dronsky, V., Bradley, W., Barohn, R., Bryan, W., Prior, T. W., Gelinas, D. F., Iannaccone, S., Kissel, J., Leshner, R., Mendell, J., Mendoza, M., Russman, B., Samaha, F., & Smith, S. (2001). A placebo-controlled trial of gabapentin in spinal muscular atrophy. Journal of the Neurological Sciences, 191(1-2), 127-131. https://doi.org/10.1016/S0022-510X(01)00632-3
  • Monani, U. R. (1999). A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Human Molecular Genetics, 8(7), 1177-1183. https://doi.org/10.1093/hmg/8.7.1177
  • Munsat, T. L., & Davies, K. E. (1992). International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany). Neuromuscular Disorders, 2(5-6), 423-428. https://doi.org/10.1016/S0960-8966(06)80015-5
  • Ogino, S., Leonard, D. G. B., Rennert, H., Ewens, W. J., & Wilson, R. B. (2002). Genetic risk assessment in carrier testing for spinal muscular atrophy. American Journal of Medical Genetics, 110(4), 301-307. https://doi.org/10.1002/ajmg.10425
  • Palacino, J., Swalley, S. E., Song, C., Cheung, A. K., Shu, L., Zhang, X., Van Hoosear, M., Shin, Y., Chin, D. N., Keller, C. G., Beibel, M., Renaud, N. A., Smith, T. M., Salcius, M., Shi, X., Hild, M., Servais, R., Jain, M., Deng, L., … Sivasankaran, R. (2015). SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice. Nature Chemical Biology, 11(7), 511-517. https://doi.org/10.1038/nchembio.1837
  • Pearn, J. (1978). Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. Journal of Medical Genetics, 15(6), 409-413. https://doi.org/10.1136/jmg.15.6.409
  • Peeters, K., Chamova, T., & Jordanova, A. (2014). Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain, 137(11), 2879-2896. https://doi.org/10.1093/brain/awu169
  • Pinto, W. B. V. de R., Souza, P. V. S. de, Badia, B. M. L., Farias, I. B., Albuquerque Filho, J. M. V. de, Gonçalves, E. A., Machado, R. I. L., & Oliveira, A. S. B. (2021). Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review. Arquivos de Neuro-Psiquiatria, 79(10), 912-923. https://doi.org/10.1590/0004-282x-anp-2020-0429
  • Prior, T. W., Leach, M. E., & Finanger, E. (1993). Spinal Muscular Atrophy. Içinde GeneReviews®. http://www.ncbi.nlm.nih.gov/pubmed/29305137
  • Rossor, A. M., Reilly, M. M., & Sleigh, J. N. (2018). Antisense oligonucleotides and other genetic therapies made simple. Practical neurology, 18(2), 126-131. https://doi.org/10.1136/practneurol-2017-001764
  • Rudnicki, S. A., Andrews, J. A., Duong, T., Cockroft, B. M., Malik, F. I., Meng, L., Wei, J., Wolff, A. A., Genge, A., Johnson, N. E., Tesi-Rocha, C., Connolly, A. M., Darras, B. T., Felice, K., Finkel, R. S., Shieh, P. B., Mah, J. K., Statland, J., Campbell, C., … Day, J. W. (2021). Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics, 18(2), 1127-1136. https://doi.org/10.1007/s13311-020-01004-3
  • Russman, B. S. (2007). Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. Journal of Child Neurology, 22(8), 946-951. https://doi.org/10.1177/0883073807305673
  • Russman, B. S., Iannaccone, S. T., & Samaha, F. J. (2003). A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy. Archives of Neurology, 60(11), 1601. https://doi.org/10.1001/archneur.60.11.1601
  • Schuster, D. J., Dykstra, J. A., Riedl, M. S., Kitto, K. F., Belur, L. R., McIvor, R. S., Elde, R. P., Fairbanks, C. A., & Vulchanova, L. (2014). Biodistribution of adeno-associated virus serotype 9 (AAV9) vector after intrathecal and intravenous delivery in mouse. Frontiers in Neuroanatomy, 8. https://doi.org/10.3389/fnana.2014.00042
  • Sivaramakrishnan, M., McCarthy, K. D., Campagne, S., Huber, S., Meier, S., Augustin, A., Heckel, T., Meistermann, H., Hug, M. N., Birrer, P., Moursy, A., Khawaja, S., Schmucki, R., Berntenis, N., Giroud, N., Golling, S., Tzouros, M., Banfai, B., Duran-Pacheco, G., … Metzger, F. (2017). Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. Nature Communications, 8(1), 1476. https://doi.org/10.1038/s41467-017-01559-4
  • Sugarman, E. A., Nagan, N., Zhu, H., Akmaev, V. R., Zhou, Z., Rohlfs, E. M., Flynn, K., Hendrickson, B. C., Scholl, T., Sirko-Osadsa, D. A., & Allitto, B. A. (2012). Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. European Journal of Human Genetics, 20(1), 27-32. https://doi.org/10.1038/ejhg.2011.134
  • T.C. Resmi Gazete. (2017). Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ. T.C.Resmi Gazete. https://www.resmigazete.gov.tr/eskiler/2017/07/20170705-8.htm
  • T.C. Resmi Gazete. (2019). Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ. T.C. Resmi Gazete. https://doi.org/https://www.resmigazete.go
  • T.C. Sağlık Bakanlığı. (2021a). Evlilik Öncesi Spinal Musküler Atrofi (SMA) Taşıyıcı Tarama Programı. T.C. Sağlık Bakanlığı.Halk Sağlığı Genel Müdürlüğü. https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/evlilik-oncesi-spinal-muskuler-atrofi-sma-tasiyici-tarama-programi.html.
  • T.C. Sağlık Bakanlığı. (2021b). https://www.saglik.gov.tr/TR,78115/sma-bilim-kurulu-toplantisina-iliskin-aciklama-09012021.html.
  • T.C. Sağlık Bakanlığı. (2022). Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı. T.C. Sağlık Bakanlığı. Halk Sağlığı Genel Müdürlüğü. https://hsgm.saglik.gov.tr/tr/tarama-programlari/ntp.html
  • United States National Library of Medicine (NLM). (2021). Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam (SAPPHIRE). United States National Library of Medicine (NLM),ClinicalTrials. https://clinicaltrials.gov/ct2/show/NCT05156320
  • United States National Library of Medicine (NLM), ClinVar. (2023). SMA Clinical significance. United States National Library of Medicine (NLM). https://www.ncbi.nlm.nih.gov/clinvar/?term=SMA
  • Verhaart, I. E. C., Robertson, A., Wilson, I. J., Aartsma-Rus, A., Cameron, S., Jones, C. C., Cook, S. F., & Lochmüller, H. (2017). Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Orphanet Journal of Rare Diseases, 12(1), 124. https://doi.org/10.1186/s13023-017-0671-8
  • Waldrop, M. A., & Kolb, S. J. (2019). Current Treatment Options in Neurology—SMA Therapeutics. Current Treatment Options in Neurology, 21(6), 25. https://doi.org/10.1007/s11940-019-0568-z
  • Yarış, F., & Aydın, S. (2013). Koruyucu Hekimlikte İstatistiksel Kavramlar. Turkiye Klinikleri J Fam Med-Special Topics., 4(5):19-23. https://www.turkiyeklinikleri.com/article/tr-koruyucu-hekimlikte-istatistiksel-kavramlar-65747.html
Toplam 53 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Derlemeler
Yazarlar

Zeliha Yücel 0000-0002-2303-9704

Emine Berrin Yüksel 0000-0001-7107-1939

Proje Numarası bulunmamaktadır
Erken Görünüm Tarihi 26 Ağustos 2023
Yayımlanma Tarihi 26 Ağustos 2023
Gönderilme Tarihi 2 Mart 2023
Kabul Tarihi 26 Mayıs 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 5 Sayı: 2

Kaynak Göster

APA Yücel, Z., & Yüksel, E. B. (2023). Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler. Genel Sağlık Bilimleri Dergisi, 5(2), 275-287.

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