DNA diagnostics in clinical practice applied to translational medicine
https://doi.org/10.25789/YMJ.2019.67.14
Abstract
The review presents examples of translation of genomic studies into practical medicine of two common in Europe hereditary diseases – autosomal recessive cystic fibrosis and autosomal dominant Huntington's Chorea. With the development of genetic technologies in the Republic Sakha (Yakutia), translational medicine is becoming a reality, it is necessary to outline the approaches and problems in this field of study on example of spinocerebellar ataxia type 1 and autosomal recessive deafness type 1A, frequent in the Republic.
Supporting agencies: The study was supported by Ministry of Education and Science of Russian Federation #6.1766.2017 project M. K. Ammosov NEFU: "Genetic features of the population of Yakutia: the structure of the gene pool, adaptation to cold, psychogenetic characteristics, the prevalence of some hereditary and infectious diseases» , FASO (BRK:0556-2017- 0003) and RFBR (18-013-00738_A , 18- 015-00212_A).
About the Authors
S. K. Kononova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Kononova Sardana Kononova - senior researcher of the laboratory of molecular genetics
Yakutsk
N. A. Barashkov
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Barashkov Nikolay Alekseevich -head of the laboratory of molecular genetics
Yakutsk
V. G. Pshennikova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Pshennikova Vera Gennadevna - researcher of the laboratory of molecular genetics
Yakutsk
O. G. Sidorova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Sidorova Oksana Gavril’evna - researcher of the laboratory of hereditary pathology
Yakutsk
T. K. Davydova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Davydova Tatyana Kimovna - PhDs in Medicine, head of the laboratory of neurodegenerative diseases
Yakutsk
S. I. Sofronova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Sofronova Sargylana Ivanovna, PhD, Chief Researcher
Yakutsk
A. N. Romanova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Romanova Anna Nikolaevna, MD, the director
Yakutsk
E. K. Khusnutdinova
Ufa Federal Research Center
Russian Federation
Russian Federation
Khusnutdinova Elsa Kamilevna - doctor of biological sciences, professor, academician of the Academy of Sciences of the Republic of Bashkortostan, Director of the Institute of biochemistry and genetics
Ufa
S. A. Fedorova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Fedorova Sardana Arkadyevna - doctor of biological sciences, head of the laboratory of molecular biology
Yakutsk
References
1. Analysis of the prevalence of 35delG mutation of the GJB2 gene in patients with sensorineural hearing loss in Yakutia / N.A. Barashkov [et al.] // Science and education.-2006.-Vol. 42.-P. 129-133.
2. Bioethical problems of presymptomatic DNA diagnosis of spinocerebellar ataxia of the 1st type in the practice of medical genetic consultation of Yakutia / S.K. Kononova [et al.] // Medical genetics.-2005.-№12.-P. 583-588.
3. Differential diagnosis of Vilyui encephalomyelitis: Study of hereditary cerebellar ataxia in Yakutia / G.L. Zubri [et al.] //Actual Problems of Virology and Prevention of Viral Diseases. M: – USSR Academy of Medical Sciences.-1972.-P. 201-210.
4. Diagnosis of spinocerebellar ataxia type 1 in the medical genetic consultation of the National Center of Medicine of the Republic Sakha (Yakutia) / C.K. Kononovа [et al.] // 2nd International Scientific Conf. "Problems of Vilyui encephalomyelitis, neurodegenerative and hereditary diseases of the nervous system". –Yakutsk, 2000.-P. 84-85.
5. Diagnosis of hereditary hearing disorders in audiology / T.G. Markova [et al.] // Non-syndromic hearing loss: a training manual.-M.:FGBOU DPO RMAPO,2018.-80 p.
6. Illarioshkin S.N. Huntington's disease as a model for the study of neurodegenerative diseases / S.N. Illarioshkin // Bulletin of the National society for the study of Parkinson's disease and movement disorders.-2016, №1.-P. 3-11.
7. Illarioshkin S.N. New mechanism of human mutation: expansion of trinucleotide repeats / S. N. Illarioshkin, I.A. Ivanova-Smolenskaya, E.D. Markova // Genetics. -1995. -№ 31. -P. 1478-1489.
8. Ivanova-Smolenskaya I.A. Clinical and molecular genetic aspects of the study of hereditary diseases of the nervous system / I.A. Ivanova-Smolenskaya //General issues of neurology and psychiatry.-1996.- №1.-P. 29-33.
9. Kusova Z.A. Features of mass screening of newborns for cystic fibrosis / Z.A. Kusova, N.Yu. Kashirskaya, N.So. Kapranov // Russian medical journal (Man and medicine. Part 1).- 2010.-Vol. 18.№5.-P. 265-270.
10. Some bioethical issues of molecular genetic diagnosis of autosomal recessive deafness type 1 a, common in the Yakut population/ S.K. Kononova [et al.] //Yakut medical journal.-2018.-№2.-P. 79-82.
11. Paltsev M.A. Molecular medicine: achievements and prospects / M.A. Paltsev// Molecular medicine.- 2004.-№4.-P. 3-8.
12. Paltsev M.A. Translational medicine is a new stage in the development of molecular medicine/ M. A. Paltsev, N.N. Belushkina // Molecular medicine.-2012.-№4.-P. 3-6.
13. Pshennikova V.G. Gene Mutations of GJB2 (Cx26), GJB6 (Cx30) and GJB3 (Cx31) in patients with congenital hearing impairment in Yakutia: thesis PhD (Biology) abstract / V.G. Pshennikova. –Ufa: 2017, 25C.
14. Problems of diagnosis of cystic fibrosis and their solutions in Russia / A.A. Baranov [et al.] // Pediatric pharmacology.-2014. -Vol. 11, №6.-P. 16-23.
15. Development of the algorithm of molecular genetic diagnosis of autosomal recessive deafness type 1A in the Republic Sakha (Yakutia)/ V. G. Pshennikova // VIII All-Russian scientific and practical conference with international participation "Molecular diagnostics 2014". - M.-2014. – Vol. 2. - Section 18. Medical genetics. - C. 212-213.
16. Translational medicine – myth or reality? / S. Suchkov // Remedium.-2013.-№ 5.-P. 8-17.
17. Shlyakhto E.V. Translational research as a model of development of modern medical science / E. V. Shlyakhto// Translational medicine.- 2014.- №1.-P. 5-18.
18. Ethical problems of medical genetic counseling on the example of Huntington's chorea / S.A. Klyushnikov [et al.] // Russian medical journal.- 2000. -№ 2. -P. 32-36.
19. Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian Founder Population: assignment to the SCA1 locus / A.Lunkes [et al.] // Experimental neurology.-1994.-Vol.126.-P.310-312.
20. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect /N.A. Barashkov [et al.] // Journal of Human Genetics. - 2011. - V.56. – №8. - P.631-639. Doi:10.1038/jhg.2011.72
21. Connexins and deafness Homepage / E. Ballana [et al]. - World wide web.-URL: http://www.crg.es/deafness.
22. Defining translational research: Implications for training / D.M. Rubio [et al.] // Academic Med. - 2010. - Vol. 85. - P. 470–475.
23. Expansion of an unstable trinukleotide CAG repeat in spinoserebellar ataxia type 1 / H.T. Orr [ et al.] // Nature Genet.-1993.- Vol.4.-P.221-226.
24. Five year study of prenatal testing for Huntington disease: demand, attitudes and psychological assessment / S. Adam [ et al.] // J Med Genet .-1993.-30.- Р. 549–556.
25. Gusella J.F. Genetic modifiers of Huntington’s disease/ J.F Gusella M.E.McDonald, J.-M. Lee // Mov. Disord. -2014. -V. 29. -P. 1359–1365.
26. GJB2 mutation and degree of hearing loss: a multicenter study /R.L. Snoeckx [et al.] // Am.J.Hum.Genet.-2005.-Vol.77.-P.945-57.
27. Huntington’s disease in Greece: the experience of 14 years / M. Panas [et al.] //Clin Genet.- 2011.- 80.-P. 586–590.
28. Identification of Cystic Fibrosis gene: Chromosome walking and jumping / J. M. Rommens [et al.] // Science. - 1989. - Vol. 245. - P. 1059-1065.
29. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA / J. M Riordan [et al.] // Science. - 1989. - Vol. 245. - P. 1066–1073.
30. Identification of the cystic fibrosis gene: genetic analysis / B. S. Kerem [et al.] // Science. - 1989. - Vol. 245.- P. 1073-1080.
31. Introduction of mutation identification 35delG gene GJB2 in hereditary forms of hearing loss/deafness in the practice of medical-genetic counseling of the Republic of Sakha (Yakutia)/ N. A. Barashkov [et al.] // Yakut medical journal. – Appendix №3.-2005.-P. 90-93.
32. Kumar D. Genes and genomes in health and disease: an introduction / D. Kumar// Genomics and health in the developing world: Oxford monographs on medical genetics.-2012.- №62.- p.23
33. Lunt P. Diagnostic genetic laboratory services: models for the developing world / P.Lunt // Genomics and health in the developing world : Oxford monographs on medical genetics.-2012
34. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice / do Carmo Costa M [et al.] // European Journal of Human Genetics 2003 V. 11: 872–8
35. On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe /A. Anichkina [et al.] // Eur.J.Hum.Genet.-2001.- Vol.9.-P.151.
36. Petticrew M. Evidence, hierarchies, and typologies: horses for courses/ M. Petticrew, H. Roberts // J.Epidemiol.Commun.Health.-2003.- V.57.-P.527-9.
37. Predictive, prenatal and diagnostic genetic testing for Huntington’s disease: the experience in Canada from 1987 to 2000 / S. Creighton [ et al.] //Clin Genet.- 2003.-V. 63.-P. 462–475.
38. Strasser B. Perspectives: Molecular Medicine / B. Strasser// Science.-1999.- 286(5444).-P.1488-90.
39. Stebnicki J.A. The culture of the deaf / J.A. Stebnicki, H.V. Coeling //.J Transcult Nurs. -1999.-Vol. 10(4).-P.350-7.
40. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis/ K. De Boeck //J.of Cystic Fibrosis.-2010.-V.13.- №4.-P.403-9.
41. Unstable Triplet Repeat and Phenotypic Variability of Spinocerebellar Ataxia Type 1/ L.G. Goldfarb [et al. ] // Ann. Neurol.- 1996.- Vol.39.-№ 4.-P.500-506.
42. van Eldik T. Mental health problems of Dutch youth with hearing loss as shown on the Youth Self Report / T. van Eldik // Am Ann Deaf .-2005.-Vol.150(1).-P.11–16
43. Working Group on Genetic Counselling and Testing of the European Huntington’s Disease Network (EHDN). Diagnostic genetic testing for Huntington’s disease/ D. Craufurd [et al.] // Pract. Neurol. -2015. -V. 15. -P. 80–84.
44. Web site NCBI (OMIM, MedLine, PubMed): http://www.ncbi:nlm.nlh.gov
45. Web site https://www.ecfs.eu/projects
Review
For citations:
Kononova S.K., Barashkov N.A., Pshennikova V.G., Sidorova O.G., Davydova T.K., Sofronova S.I., Romanova A.N., Khusnutdinova E.K., Fedorova S.A. DNA diagnostics in clinical practice applied to translational medicine. Yakut Medical Journal. 2019;(3):50-55. https://doi.org/10.25789/YMJ.2019.67.14
Views:
4
Email this article 