A clinical case of ischemic stroke in a young patient with a previously undescribed nucleotide sequence c.808T > C (p.Tyr270His of the GLBI gene (NM_ 000404.3, GMI-gangliosidosis type 2) in a heterozygous state
N. V. Komissarova,
A. A. Malkova,
O. P. Potorochina,
A. A. Ovchinnikova,
P. O. Ivanina,
D. O. Bayusheva https://doi.org/10.20340/vmi-rvz.2023.3.CASE.3
Abstract
At this stage in the development of medicine, there are difficulties in establishing the etiology of stroke in young patients. There are few significant risk factors from the group of metabolic hereditary diseases in the development of "young" strokes in the literature. This prompts the publication of our observation. Aim: to describe a unique clinical case of "young" ischemic stroke in a 27-year-old woman whose daughter was diagnosed with type 2 gangliosidosis. To determine the cause of the stroke, the patient underwent DNA diagnostics, which showed a previously undescribed nucleotide sequence. A clinical case of ischemic stroke caused by a previously undescribed nucleotide sequence is presented.
Keywords
gene mutations,
hereditary diseases,
lysosomal storage diseases,
GM1 gangliosidosis,
ischemic stroke
УДК: УДК 616.831-005.1-056.7:577.113.3
About the Authors
N. V. Komissarova
Izhevsk State Medical Academy;
Republican Clinical Hospital
Russian Federation
Russian Federation
Natalia V. Komissarova, Cand. Sci. (Med.), Neurologist, Neurological Department No. 3
57 Votkinskoe Highway str., Izhevsk, 426039
A. A. Malkova
Izhevsk State Medical Academy;
Republican Clinical Hospital
Russian Federation
Russian Federation
Alla A. Malkova, Cand. Sci. (Med.), Neurologist, Neurological Department No. 3
57 Votkinskoe Highway str., Izhevsk, 426039
O. P. Potorochina
Republican Clinical Hospital
Russian Federation
Russian Federation
Olga P. Potorochina, Neurologist, Neurological Department No. 3
57 Votkinskoe Highway str., Izhevsk, 426039
A. A. Ovchinnikova
Izhevsk State Medical Academy
Russian Federation
Russian Federation
Anastasia A. Ovchinnikova, Student
281 Kommunarov str., Izhevsk, 426034
P. O. Ivanina
Izhevsk State Medical Academy
Russian Federation
Russian Federation
Polina O. Ivanina, Student
281 Kommunarov str., Izhevsk, 426034
D. O. Bayusheva
Izhevsk State Medical Academy
Russian Federation
Russian Federation
Darya O. Bayusheva, Student
281 Kommunarov str., Izhevsk, 426034
References
1. 1 Callahan JW. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidaselike protein. Biochim Biophys Acta. 1999;1455(2-3):85–103.
2. Sandhoff K, Harzer K. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 2013;33(25):10195–10208. https://doi.org/10.1523/JNEUROSCI.0822-13.2013
3. Casado M., Altimira L., Montero R., Castejo´n E., Nascimento A., Pe´rez Duen˜as B., Ormazabal A., and Artuch R. A capillary electropho resis procedure for the screening of oligosaccharides and related diseases. Anal. Bioanal. 2014;406(18):4337-43. https://doi.org/10.1007/s00216-014-7832-6
4. Lawrence R., Van Vleet J. Mangini L., Harris A., Martin N., Clark W., Chandriani S., LeBowitz J., Giugliani R., d Azzo A., Yogalingam G. and Crawford, B. Characterization of glycan substrates accumulating in GM1 gangliosidosis. Mol. Genet. Metab. Rep. 2019;21:100524. https://doi.org/10.1016/j.ymgmr.2019.100524
5. Piraud M., Pettazzoni M., Menegaut L., Caillaud C., Nadjar Y., Vianey Saban C. and Froissart R. Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosac charidoses. Rapid Commun. Mass Spectrom. 2017;31: 951–963.
6. Caciotti A, Garman SC, Rivera-Colo´n Y, et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011;1812(7):782–790. https://doi.org/10.1016/j.bbadis.2011.03.018
7. Bonten EJ, Annunziata I, d’Azzo A. Lysosomal multienzyme complex: pros and cons of working together. Cell Mol Life Sci. 2014;71(11):2017–2032. https://doi.org/10.1007/s00018-013-1538-3
8. Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T. Crystal structure of human b-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. J Biol Chem. 2012;287(3):1801–1812. https://doi.org/10.1074/jbc.M111.293795
9. Okumiya T, Sakuraba H, Kase R, Sugiura T. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease. Mol Genet Metab. 2003;78(1):51–58.
10. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008; 94(4):391–396. https://doi.org/0.1016/j.ymgme.2008.04.012
11. Gorbunova V.N. Congenital metabolic diseases. Lysosomal storage diseases. Pediatrician (St. Petersburg). 2021;12(2):73–83. (In Russ). https://doi.org/10.17816/PED12273-83
12. A.S. Nikiforov, M.R. Guseva «Oftalmoneurology». M 2014. Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova. 2014;114(12):161-161. (In Russ). https://doi.org/10.17116/jnevro2014114121161
13. Rudenskaya G.E., Zakharova E.Y. Hereditary neurometabolic diseases of youth and adulthood. Moscow: GEOTARMedia, 2018; 392 p. (In Russ).
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Komissarova N.V., Malkova A.A., Potorochina O.P., Ovchinnikova A.A., Ivanina P.O., Bayusheva D.O. A clinical case of ischemic stroke in a young patient with a previously undescribed nucleotide sequence c.808T > C (p.Tyr270His of the GLBI gene (NM_ 000404.3, GMI-gangliosidosis type 2) in a heterozygous state. Bulletin of the Medical Institute "REAVIZ" (REHABILITATION, DOCTOR AND HEALTH). 2023;13(3):122-126. (In Russ.) https://doi.org/10.20340/vmi-rvz.2023.3.CASE.3
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