А.G. KIRILLOV¹, E.A. GURYANOVA^{1, 2}, A.V. GOLENKOV^{1, 2}

 ¹Institute for Advanced Training of Physicians, Cheboksary

²Chuvash State University named after I. N. Ulyanov, Cheboksary

Contact details:

Kirillov A.G. — MD, Chief Researcher

Address: 27 M. Sespelya St., 428018 Cheboksary, Russian Federation, tel.: +7 (8352) 70-92-42 (ext. 224), e-mail: giduv-muz@med.cap.ru

The article discusses hereditary isolated hypotrichosis; hereditary erythrocytosis; autosomal recessive osteopetrosis; and autosomal dominant brachydactylia type B, which are highly endemic for Chuvashia. Comparison of the frequencies of rare hereditary pathology observed among the indigenous population of Chuvash and Mari El Republics with other peoples of the Russian Federation gives us reason to believe that some rare diseases are far from orphan for the Chuvash and Mari populations. Modern approaches to their treatment and prevention are discussed.

Key words: orphan diseases, autosomal recessive diseases, prevention, treatment.

REFERENCES

1. Ginter E.K. Etnicheskie osobennosti rasprostraneniya nasledstvennykh bolezney. Genetika cheloveka, 1978, vol. 3, pp. 122–159 (in Russ.).
2. Zinchenko (Mamedova) R.A., El’chinova G.I., Kozlova S.I. et al. Epidemiologiya nasledstvennykh bolezney v respublike Chuvashiya. Meditsinskaya genetika, 2002, vol. 1, no. 1, pp. 24–33 (in Russ.).
3. Zinchenko R.A., El’chinova G.I., Galkina V.A. et al. Differentsiatsiya etnicheskikh grupp Rossii po genam nasledstvennykh zabolevaniy. Meditsinskaya genetika, 2007, vol. 6, no. 2 (56), pp. 29–37 (in Russ.).
4. Stepanova A.A. Genetic Variant c.245A>G (p.Ans82Sep) in GIPS3 gene is a frequent cause of hereditary nonsyndromic sensorieneural hearing loss in Chuvash population. Genes, 2021, vol. 12, p. 820.
5. Ginter E.K., Zinchenko R.A. et al. Geneticheskaya struktura i nasledstvennye bolezni chuvashskoy populyatsii [Genetic structure and hereditary diseases of the Chuvash population]. Cheboksary: Izdatel’skiy dom “Pegas”, 2006. Pp. 69–100.
6. Belousov Yu.B. Bolezni-siroty i sirotskie lekarstva [Orphan diseases and orphan drugs]. Remedium, 2007, no. 9, pp. 8–10 (in Russ.).
7. Abrukova A.V. Epidemiologicheskoe i kliniko-geneticheskoe issledovanie nasledstvennogo gipotrikhoza v Respublike Chuvashiya: avtoref. … dis. kand. med. nauk [Epidemiological and clinical-genetic study of hereditary hypotrichosis in the Chuvash Republic. Synopsis of Dis PhD med. sciences]. Moscow, 2007. 25 p.
8. Kazantseva A., Goltsov R., Zinchenko et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science, 2006, vol. 314 (5801), pp. 982–985. DOI: 10.1126/science.1133276
9. Vasserman N.N., Tverskaya S.M., Zinchenko R.A., Polyakov A.V. Population frequency of the C598T mutation in the VHL gene leading to the development of autosomal recessive erythrocytosis. Meditsinskaya genetika, 2005, vol. 4, no. 4, p. 71 (in Russ.).
10. Miasnikova G.Y., Sergueeva A.I., Nouraie M., Niu X., Okhotin D.J., Polyakova L.A. et al. The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. Haematologica, 2011, vol. 96 (9), rr. 1371–1374. DOI: 10.3324/haematol.2011.045609
11. Gordeuk V.R. Chuvash polycythemia: diagnosis and management. Clin. Adv. Hematol. Oncol., 2011, vol. 9 (12), pp. 929–930.
12. Zhou A.W., Knoche E.M., Engle E.K., Ban-Hoefen M., Kaiwar C., Oh S.T. Clinical improvement with JAK2 inhibition in Chuvash polycythemia. N Engl. J. Med., 2016, vol. 375 (5), rr. 494–496. DOI: 10.1056/NEJMc1600337
13. Fitch N. Classification and identification of inherited brachydactylies. J. Med. Genet, 1979, vol. 16 (1), rr. 36–44. DOI: 10.1136/jmg.16.1.36
14. Roodman G.D. Cell biologi of the osteoclast. Exp. Hematol, 1999, vol. 27, pp. 1229–1241.
15. Frattini A., Orchard P.J., Sobacchi C. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genet, 2000, vol. 25, pp. 343–346. DOI: 10.1038/77131
16. Kornak U., Kasper D., Bosl M.R. et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell, 2001, vol. 104, pp. 205–215. DOI: 10.1016/s0092-8674(01)00206-9
17. Utku N., Heinemann T., Tullius S.G. et al. Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein. Immunity, 1998, vol. 9, pp. 509–518.
18. Li Y.P., Chen W., Stashenko P. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. Biochem. Biophys. Res. Commun, 1996, vol. 218, pp. 813–821.
19. Bliznets E.A., Ginter E.K., Kirillov A.G., Zinchenko R.A., Tverskaya S.M., Polyakov A.V. Molecular genetic study of autosomal recessive osteopetrosis in Chuvashia. Meditsinskaya genetika, 2005, vol. 3, no. 10, pp. 490–492 (in Russ.).
20. Bliznets E.A., Zinchenko R.A., Tverskaya S.M., Nikulin M.V., Ginter E.K., Polyakov A.V. Population frequency and age of mutation C.807+5G>A in the TCIRG1 gene, which is the cause of autosomal recessive osteopetrosis in Chuvashia. Meditsinskaya genetika, 2006, vol. 5, no. 9 (51), pp. 9–15 (in Russ.).
21. Bliznetz E.A., Tverskaya S.M., Zinchenko R.A. et al. The molecular genetic cause of osteopetrosis in Chuvashia. Eur. J. Hum. Gen, 2005, vol. 13, p. 279.
22. Kirillov A.G., Ginter E.K. Experience of prenatal diagnostics of congenital osteopetrosis. Meditsinskaya genetika, 2004, vol. 3, no. 10, pp. 490–492 (in Russ.).
23. Walker D.G. Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. Science, 1975, vol. 190 (4216), rr. 784–785. DOI: 10.1126/science.1105786
24. Coccia P.F., Krivit W. Cervenka J. et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. New Eng. J. Med, 1980, vol. 302, rr. 701–708.
25. Fischer A., Friedrich W., Levinsky R., Vossen J., Griscelli C., Kubanek V. et al. Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968–1985. Lancet, 1986, vol. 2 (8515), pp. 1080–1084. DOI: 10.1016/s0140-6736(86)90477-0
26. Sieff C.F., Chessells J.M., Levinsky R.J. et al. Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis. Lancet, 1983, vol. 1 (8322), rr. 437–441. DOI: 10.1016/s0140-6736(83)91438-1