НОВЫЙ ВЗГЛЯД НА МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ АСПЕКТЫ ПРОКСИМАЛЬНЫХ СПИНАЛЬНЫХ МЫШЕЧНЫХ АТРОФИЙ У ДЕТЕЙ (ОБЗОР И СОБСТВЕННЫЕ НАБЛЮДЕНИЯ)
Аннотация
Спинальная мышечная атрофия – это прогрессирующее генетическое нейромышечное заболевание, приводящее к инвалидизации. Значительные достижения в области молекулярно-генетических исследований при этой патологии позволили расширить понимание патогенетических механизмов, включая определение модифицирующих факторов, оказывающих влияние на тяжесть течения и диверсификацию заболевания. Разработка молекулярных биомаркеров является многообещающим для СМА в контексте поиска эффективной патогенетической терапии. Однако впереди еще долгий путь. Учитывая сложность и многогранность заболевания, путь вперед будет достаточно сложной задачей. Тем не менее, учитывая определенные достижения в области генной терапии в целом, есть основания для осторожного оптимизма.
Литература
1. Гузева В.И. Детская неврология: клинические рекомендации. М.: СИМК; 2015. 332.
2. Kolb S.J., Kissel J.T. Spinal muscular atrophy. Neurol Clin. 2015; 33(4): 831-846.
3. Петрухин А.С. Детская неврология. Т2. М.: ГЭОТАР-Медиа; 2018. 555.
4. Darras B.T. Spinal muscular atrophies. Pediatr. 2015; 62(3): 743-766.
5. Darras B.T. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011; 77(4): 312-314.
6. Соколова М.Г.Спинальная мышечная атрофия у детей: этиология, патогенез, диагностика и принципы лечения. Вестник СЗГМУ. 2013; 5(4):108-114.
7. Prior T.W. Newborn and carrier screening for spinal muscular atrophy. Am. J. Med. Genet. A. 2010; 152A (7): 1608-16.
8. Sampaio H., Wilcken B., Farrar M. Screening for spinal muscular atrophy.Med. J. Aust. 2018; 209(4): 147-148.
9. Lunn M.R., Wang C.H. Spinal muscular atrophy. Lancet. 2008; 371(9630): 2120-2133.
10. Hamilton G, Gillingwater T.H. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013; 19(1): 40-50.
11. Dubowitz V. Spinal Muscular Atrophy Revisited. Neuromuscul. Disord. 2019; 29(6): 413-414.
12. Bai J.L., Qu Y.J., Cao Y.Y., eds. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genet. Test. Mol. Biomarkers. 2014; 18(8): 546-51.
13. He S.X., Ge X.S., Qu Y.J., eds. Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011; 28(6): 606-11.
14. Vill K., Kölbel H., Schwartz O., eds. One Year of Newborn Screening for SMA – Results of a German Pilot Project. J Neuromuscul Dis. 2019; 6(4): 503-515.
15. Kwan A, Puck J.M. History and current status of newborn screeningfor severe combined immunodeficiency. Semin Perinatol. 2015; 39(3): 194-205.
16. Chien Y.H., Chiang S.C., Weng W.C., eds. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017; 190: 124-129.
17. Committee on Bioethics, Committee on Genetics, and the American College Of Medical Genetics and the Genomics, Social,Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013; 131(3): 620-622.
18. Ross L.F., Saal H.M., David K.L., Anderson R.R.; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15(3): 234-245.
19. Maretina М., Kiselev А., Zheleznyakova G., eds. Study of positive modifiers of spinal muscular atrophy severity in Russian patients. Nürnberg, Germany. 2012; 20: 334-335.
20. Zabnenkova V.V., Dadali E.L., Poljakov A.V. Analysis of the carriage of deletions in the SMN gene responsible for the occurrence of type I-IV spinal muscular atrophy. Medical Genetics. 2012. 11(1): 3-9.
21. Забненкова В.В., Дадали Е.Л., Поляков А.В. Модифицирующие факторы, оказывающие влияние на тяжесть течения спинальных мышечных атрофий I-IV типов. Медицинская генетика. 2011; 10(5):15-21.
22. Wee C.D., Kong L., Sumner C.J. The genetics of spinal muscular atrophies. Curr. Opin. Neurol. 2010; 23(5): 450-8.
23. Забненкова В.В., Дадали Е.Л., Поляков А.В. Анализ носительства делеций в гене SMN, ответственном за возникновение спинальной мышечной атрофии I-IV типа. Медицинская генетика. 2012; 11(1): 3-9.
24. Watihayati M.S., Zabidi-Hussin A.M., ТаngТ.H., eds. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. PediatrInt. 2007; 49(1): 11-4.
25. Omrani O., Bonyadi M., Barzgar M. Molecular analyses of the SMN and NAIP genes in Iranian spinal muscular atrophy patients. Pediatr. 2009; 51(2): 193-6.
26. Butchbach M.E. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci. 2016; 3:7.
27. Ahmad S., Wang Y., Shaik G.M., Burghes A.H., Gangwani L. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet. 2012; 21(12): 2745-2758.
28. Yener I.H., Topaloglu H., Erdem-Ozdamar S., Dayangac-Erden D. Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. Pediatr Int. 2017; 59(1): 53-56.
29. Jiang J., Huang J., Gu J., eds. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. BMC Med Genet. 2019; 20: 204.
30. Hwang H., Lee J.H., Choi Y.C. Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. Yonsei Med. J. 2017; 58(5): 1051-1054.
31. Alías L., Barceló M.J., Bernal S., eds. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. 2014; 85(5): 470-5.
32. Забненкова В.В., Дадали Е.Л., Руденская Г.Е., Галкина В.А., Федотов В.П., Поляков А.В. Анализ фено-генотипической корреляции у российских больных СМА I-IV типа. Медицинская генетика. 2012; 11(1): 15-21.
33. Kang P.B. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Nerve. 2014; 49(5): 636-44.
34. Harahap N.I.F., Niba E.T.E., Ar Rochmah M., Wijaya Y.O.S. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.Brain Dev. 2018; 40(8): 670-77.
35. Maretina M.A., Kiselev A.B., Zheleznjakova G.J., eds.Determination of the number of copies of the SMN2 gene in patients with spinal muscular atrophy of the North-West region of Russia. Medical Genetics. 2012; 4: 25-28.
36. Ogino S., Gao S., Leonard D.G., eds. Inverse correlation between SMN1 and SMN2 copy numbers:Evidence for gene conversion from SMN2 to SMN1. Eur. J. Hum. Genet. 2003; 11:275-277.
37. Botkin J.R., Belmont J.W., Berg J.S., eds. Points to consider: ethical,legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015; 97(1): 6-21.
38. Botkin J.R., Clayton E.W., Fost N.C., eds. Newborn screening technology: proceed with caution. Pediatrics. 2006; 117(5): 1793-1799
39. Patitucci A. SMN1 gene copy number analyses for SMA healthy carriers in Italian population. J. Pediatr. Genet.2012; 1(2): 99-102.
40. DU J., Qu Y.J., Xiong H., eds. Mutation analysis of SMN1 gene in patients with spinal muscular atrophy. Zhonghua Er Ke Za Zhi. 2011; 49(6): 411-5.
41. Quang D., Chen Y., Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2015; 31(5): 761-763.
42. Ogino S., Wilson R.B. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev. Mol. Diagn. 2004; 4(1): 15-29.
43. Rudnik-Schöneborn S. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counsellingю Clin. Genet. 2009; 76(2): 168-78.
44. Harada Y. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J. Neurol. 2002; 249(9): 1211-9.
45. Wirth B. Moving towards treatments for spinal muscular atrophy: hopes and limits. Expert Opin. Emerg. Drugs. 2015; 20(3): 353-6.
46. Jedrzejowska M. Incidence of spinal muscular atrophy in Poland--more frequent than predicted? Neuroepidemiology. 2010; 34(3): 152-7.
47. Verhaart I.E.C., Robertson A., Wilson I.J., eds. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12(1):124.
48. Singh N.N., Seo J., Rahn S.J, Singh RN. A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS One. 2012; 7(11): e49595.
49. Shababi M., Lorson C.L. Optimization of SMN trans-splicing through the analysis of SMN introns. J Mol Neurosci. 2012; 46(3): 459-69.
50. Scarciolla O., Stuppia L., De Angelis M.V., eds. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-de- pendent probe amplification. Neurogenetics. 2006; 7(4): 239-76.
2. Kolb S.J., Kissel J.T. Spinal muscular atrophy. Neurol Clin. 2015; 33(4): 831-846.
3. Петрухин А.С. Детская неврология. Т2. М.: ГЭОТАР-Медиа; 2018. 555.
4. Darras B.T. Spinal muscular atrophies. Pediatr. 2015; 62(3): 743-766.
5. Darras B.T. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011; 77(4): 312-314.
6. Соколова М.Г.Спинальная мышечная атрофия у детей: этиология, патогенез, диагностика и принципы лечения. Вестник СЗГМУ. 2013; 5(4):108-114.
7. Prior T.W. Newborn and carrier screening for spinal muscular atrophy. Am. J. Med. Genet. A. 2010; 152A (7): 1608-16.
8. Sampaio H., Wilcken B., Farrar M. Screening for spinal muscular atrophy.Med. J. Aust. 2018; 209(4): 147-148.
9. Lunn M.R., Wang C.H. Spinal muscular atrophy. Lancet. 2008; 371(9630): 2120-2133.
10. Hamilton G, Gillingwater T.H. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013; 19(1): 40-50.
11. Dubowitz V. Spinal Muscular Atrophy Revisited. Neuromuscul. Disord. 2019; 29(6): 413-414.
12. Bai J.L., Qu Y.J., Cao Y.Y., eds. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genet. Test. Mol. Biomarkers. 2014; 18(8): 546-51.
13. He S.X., Ge X.S., Qu Y.J., eds. Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011; 28(6): 606-11.
14. Vill K., Kölbel H., Schwartz O., eds. One Year of Newborn Screening for SMA – Results of a German Pilot Project. J Neuromuscul Dis. 2019; 6(4): 503-515.
15. Kwan A, Puck J.M. History and current status of newborn screeningfor severe combined immunodeficiency. Semin Perinatol. 2015; 39(3): 194-205.
16. Chien Y.H., Chiang S.C., Weng W.C., eds. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017; 190: 124-129.
17. Committee on Bioethics, Committee on Genetics, and the American College Of Medical Genetics and the Genomics, Social,Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013; 131(3): 620-622.
18. Ross L.F., Saal H.M., David K.L., Anderson R.R.; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15(3): 234-245.
19. Maretina М., Kiselev А., Zheleznyakova G., eds. Study of positive modifiers of spinal muscular atrophy severity in Russian patients. Nürnberg, Germany. 2012; 20: 334-335.
20. Zabnenkova V.V., Dadali E.L., Poljakov A.V. Analysis of the carriage of deletions in the SMN gene responsible for the occurrence of type I-IV spinal muscular atrophy. Medical Genetics. 2012. 11(1): 3-9.
21. Забненкова В.В., Дадали Е.Л., Поляков А.В. Модифицирующие факторы, оказывающие влияние на тяжесть течения спинальных мышечных атрофий I-IV типов. Медицинская генетика. 2011; 10(5):15-21.
22. Wee C.D., Kong L., Sumner C.J. The genetics of spinal muscular atrophies. Curr. Opin. Neurol. 2010; 23(5): 450-8.
23. Забненкова В.В., Дадали Е.Л., Поляков А.В. Анализ носительства делеций в гене SMN, ответственном за возникновение спинальной мышечной атрофии I-IV типа. Медицинская генетика. 2012; 11(1): 3-9.
24. Watihayati M.S., Zabidi-Hussin A.M., ТаngТ.H., eds. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. PediatrInt. 2007; 49(1): 11-4.
25. Omrani O., Bonyadi M., Barzgar M. Molecular analyses of the SMN and NAIP genes in Iranian spinal muscular atrophy patients. Pediatr. 2009; 51(2): 193-6.
26. Butchbach M.E. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci. 2016; 3:7.
27. Ahmad S., Wang Y., Shaik G.M., Burghes A.H., Gangwani L. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet. 2012; 21(12): 2745-2758.
28. Yener I.H., Topaloglu H., Erdem-Ozdamar S., Dayangac-Erden D. Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. Pediatr Int. 2017; 59(1): 53-56.
29. Jiang J., Huang J., Gu J., eds. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. BMC Med Genet. 2019; 20: 204.
30. Hwang H., Lee J.H., Choi Y.C. Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. Yonsei Med. J. 2017; 58(5): 1051-1054.
31. Alías L., Barceló M.J., Bernal S., eds. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. 2014; 85(5): 470-5.
32. Забненкова В.В., Дадали Е.Л., Руденская Г.Е., Галкина В.А., Федотов В.П., Поляков А.В. Анализ фено-генотипической корреляции у российских больных СМА I-IV типа. Медицинская генетика. 2012; 11(1): 15-21.
33. Kang P.B. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Nerve. 2014; 49(5): 636-44.
34. Harahap N.I.F., Niba E.T.E., Ar Rochmah M., Wijaya Y.O.S. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.Brain Dev. 2018; 40(8): 670-77.
35. Maretina M.A., Kiselev A.B., Zheleznjakova G.J., eds.Determination of the number of copies of the SMN2 gene in patients with spinal muscular atrophy of the North-West region of Russia. Medical Genetics. 2012; 4: 25-28.
36. Ogino S., Gao S., Leonard D.G., eds. Inverse correlation between SMN1 and SMN2 copy numbers:Evidence for gene conversion from SMN2 to SMN1. Eur. J. Hum. Genet. 2003; 11:275-277.
37. Botkin J.R., Belmont J.W., Berg J.S., eds. Points to consider: ethical,legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015; 97(1): 6-21.
38. Botkin J.R., Clayton E.W., Fost N.C., eds. Newborn screening technology: proceed with caution. Pediatrics. 2006; 117(5): 1793-1799
39. Patitucci A. SMN1 gene copy number analyses for SMA healthy carriers in Italian population. J. Pediatr. Genet.2012; 1(2): 99-102.
40. DU J., Qu Y.J., Xiong H., eds. Mutation analysis of SMN1 gene in patients with spinal muscular atrophy. Zhonghua Er Ke Za Zhi. 2011; 49(6): 411-5.
41. Quang D., Chen Y., Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2015; 31(5): 761-763.
42. Ogino S., Wilson R.B. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev. Mol. Diagn. 2004; 4(1): 15-29.
43. Rudnik-Schöneborn S. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counsellingю Clin. Genet. 2009; 76(2): 168-78.
44. Harada Y. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J. Neurol. 2002; 249(9): 1211-9.
45. Wirth B. Moving towards treatments for spinal muscular atrophy: hopes and limits. Expert Opin. Emerg. Drugs. 2015; 20(3): 353-6.
46. Jedrzejowska M. Incidence of spinal muscular atrophy in Poland--more frequent than predicted? Neuroepidemiology. 2010; 34(3): 152-7.
47. Verhaart I.E.C., Robertson A., Wilson I.J., eds. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12(1):124.
48. Singh N.N., Seo J., Rahn S.J, Singh RN. A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS One. 2012; 7(11): e49595.
49. Shababi M., Lorson C.L. Optimization of SMN trans-splicing through the analysis of SMN introns. J Mol Neurosci. 2012; 46(3): 459-69.
50. Scarciolla O., Stuppia L., De Angelis M.V., eds. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-de- pendent probe amplification. Neurogenetics. 2006; 7(4): 239-76.
Опубликована
2020-02-28
Как цитировать
ШАЙМУРЗИН, М. Р..
НОВЫЙ ВЗГЛЯД НА МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ АСПЕКТЫ ПРОКСИМАЛЬНЫХ СПИНАЛЬНЫХ МЫШЕЧНЫХ АТРОФИЙ У ДЕТЕЙ (ОБЗОР И СОБСТВЕННЫЕ НАБЛЮДЕНИЯ).
Университетская клиника, [S.l.], n. 1(34), p. 55-61, фев. 2020.
ISSN 1819-0464. Доступно на: <http://journal.dnmu.ru/index.php/UC/article/view/431>. Дата доступа: 05 ноя. 2024
doi: https://doi.org/10.26435/uc.v0i1(34).431.
Раздел
Обзоры
