Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı

Year 2021, Volume: 4 Issue: 1, 41 - 68, 30.03.2021

Deniz Kanca Demirci , Nurdan Gül , İlhan Satman , Oguz Ozturk , Hülya Yılmaz Aydoğan

https://doi.org/10.46373/hafebid.880832

Cited By: 1

Abstract

Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) otozomal dominant kalıtım ile karakterize monogenik bir hastalıktır. Şimdiye kadar 14 farklı gende çok sayıda heterozigot mutasyonlar tanımlanmış olup bu mutasyonların dağılımı her ülkede farklıdır. Çalışmamızda yaygın MODY alt tipleri, MODY1-3, için literatür araştırması yaparak HNF4A, GCK ve HNF1A genlerindeki yanlış anlamlı mutasyonları özetledik. Ancak Asya populasyonlarında bilinen MODY genleri bu diyabetik bireylere tanı koymak için yeterli olmayıp çoğu MODYX olarak tanımlanmaktadır. Dahası, Avrupa ülkeleri ile kıyaslandığında Çin, Japonya, Kore ve Hindistan populasyonlarında MODY prevalansında çelişkiler mevcut olup hastalığın genetik alt yapısının daha iyi anlaşılması için daha fazla genetik çalışmaya ihtiyaç duyulmaktadır.

Keywords

MODY, HNF1A, HNF4A, GCK

References

• Harikumar K., Kumar B.K., Hemalatha G.J., Kumar M.B., Fransis S.L. A Review on Diabetes Mellitus. International Journal of Novel Trends in Pharmaceutical Sciences. 2015 Jun; 5(3): 201-207. ISSN: 2277 – 2782.
• Tattersall R.B. Mild familial diabetes with dominant inheritance. Q J Med. 1974 Apr;43(170):339-57.
• McDonald, T.J. ve Ellard, S. Maturity onset diabetes of the young: identification and diagnosis. Annals of Clinical Biochemistry, 2013; 50(5): 403–415.
• Agarwal S.K., Khatri S., Prakash N., Singh N.P., Anuradha S. ve Prakash A. Maturity Onset Diabetes of Young. JIACM, 2002; 3(3), 271-277.
• Bosma, A.R., Rigter, T., Weinreich, S.S., Cornel, M.C. ve Henneman, L. A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members. Diabet Med, 2015; 32(10), 1385-1392.
• Gardner, D.S. and Tai, E.S. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabetes Metab Syndr Obes, 2012; 5, 101-108. doi:10.2147/DMSO.S23353
• Nakhla, M. and Polychronakos, C. Monogenic and Other Unusual Causes of Diabetes Mellitus. Pediatric Clinics of North America, 2005; 52,1637– 1650.
• Ovysyannikova A.K., Rymar O.D., Shakhtshneider E.V., Klimontov V.V., Koroleva E.A, et al. ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective. Diabetes Ther. 2016 Sep;7(3):591-600. doi: 10.1007/s13300-016-0192-9. Epub 2016 Aug 18.
• Oliveira, S.C., Neves, J.S., Perez, A. and Carvalho, D. Maturity-onset diabetes of the young: From a molecular basis perspective toward the clinical phenotype and proper management. Endocrinol Diabetes Nutr. 2020;67(2):137-147
• Atabek, M.E. ve Kurtoglu, S. Gençlerin Erişkin Başlangıçlı Diabeti. Turkish Journal Of Medical Sciences, 2004; 24, 167-172.
• Fajans, S.S. Scope and Heterogeneous nature of MODY. Diabetes Care, 1990; 13:49-64.
• Kahn, C.R., Weir, G.C., King, G.L., Moses, A.C., Smith, R.J. ve Jacobson, A.M. Joslin’s Diabetes mellitus. 14. Baskı. (2005). Chapter 22: Genetics of Type 2 Diabetes Lippincott Williams and Wilkins; 371-392.
• Vaxillaire, M. ve Froguel, P. Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes. Endocrine Reviews, 2008; 29(3), 254–264.
• Thanabalasingham, R. and Owen, K.R. Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ 2011;343:d6044 doi: 10.1136/bmj.d6044
• Kim, S.H. Maturity-onset diabetes of the young: what do cli¬nicians need to know? Diabetes Metab J. 2015; 39:468-77.
• Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Buranasupkajorn, P., et al. Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. Am J Hum Genet, 2015; 97(1), 177-185. doi:10.1016/j.ajhg.2015.05.011
• Nkonge, K.M., Nkonge, D.K. and Nkonge, T.N. The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). Clinical Diabetes and Endocrinology. 2020;6:20
• Ellard, S., Bellanne-Chantelot, C., Hattersley, A.T, et al. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008 Apr; 51(4):546–53. [PubMed: 18297260]
• Juszczak, A. ve Owen, K. Identifying subtypes of monogenicdiabetes. Diabetes Manage, 2014; 4(1), 49–61.
• Kleinberger, J.W. ve Pollin, T.I. Undiagnosed MODY: Time for Action. Curr Diab Rep, 2015; 15(12), 110. doi:10.1007/s11892-015-0681-7
• Dusatkova, P., Fang, M., Pruhova, S., Gjesin, A.P., Cinek, O., et al. Lessons from whole-exome sequencing in MODYX families. Diabetes and Clinical Practice. 2014. 104; e72-e74.
• Kawakita, R., Hosokawa, Y., Fujimaru, R., et al. Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. Diabet Med. 2014 Nov; 31(11):1357–62. [PubMed: 24804978]
• Moghbeli, M., Naghibzadeh, B., Ghahraman, M., Fatemi, S., Taghavi, M., Vakili, R. ve ark. (2018). Mutations in HNF1A Gene are not a Common Cause of Familial Young-Onset Diabetes in Iran. Ind J Clin Biochem, 33(1), 91–95.
• Cho, E.H., Min, J.W., Choi, S.S., Choi, H.S. ve Kim, S.W. Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing. Endocrinol Metab (Seoul), 2017; 32(2), 296-301. doi:10.3803/EnM.2017.32.2.296
• Hwang, J.S., Shin, C.H., Yang, S.W., Jung, S.Y. ve Huh, N. Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. Diabetes Res Clin Pract, 2006; 74(1), 75-81. doi:10.1016/j.diabres.2006.03.002
• Xu, J.Y., Dan, Q.H, Chan, V., Wat, N.M., Tam, S., et al. Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. Eur J Hum Genet 2005;13:422–7.
• Zhang, M., Zhou, J.J., Cui, W., Li, Y., Yang, P., Chen, X., et al. Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. Journal of Diabetes, 2015; 7, 858–863.
• Horikawa, Y., Hosomichi, K., Enya, M., Ishiura, H., Suzuki, Y., et al. No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. Journal of Human Genetics. 2018. https://doi.org/10.1038/s10038-018-0449-4
• Zhang, J., Li, L., Jiang, Y., Lu, M., Chen, Y., et al. The first E59Q mutation identified in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young. Journal of Bio-X Research. 2020. http://dx.doi.org/10.1097/JBR.0000000000000065
• Iwasaki, N., Oda, N., Ogata, M., Hara, M., Hinokio, Y., et al. Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes 1997;46:1504–8.
• Nishigori, H., Yamada, S., Kohama, T., Utsugi, T., Shimizu, H., et al. Mutations in the hepatocyte nuclear factor-1á gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J Hum Genet. 1998; 43:107-110.
• Tonooka, N., Tomura, H., Takahashi, Y., Onigata, .K, Kikuchi, N., et al. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 2002;45:1709–12.
• Jang, K.M. Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment. Yeungnam Univ J Med 2020;37(1):13-21. https://doi.org/10.12701/yujm.2019.00409
• Urakami, T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2019:12 1047–1056
• Park, S.S., Jang, S.S., Ahn, C.H., Kim, J.H., Jung, H.S., et al. Identifying pathogenic variants of monogenic diabetes using targeted panel sequencing in an east Asian population. J Clin Endocrinol Metab 2019;jc.2018-02397.
• Tanaka, D., Nagashima, K., Sasaki, M., Funakoshi, S., Kondo, Y., et al. Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes. Mol Genet Metab 2013;109:112–7.
• Shim, Y.J., Kim, J.E., Hwang, S.K., Choi, B.S., Choi, B.H., et al. Identification of candidate gene variants in Korean MODY families by whole-exome sequencing. Horm Res Paediatr 2015;83:242–51.
• Bonatto, N., Nogaroto, V., Svidnicki, P.V., Milléo, F.Q., Grassiolli, S., Almeida, M.C., ve ark. Variants of the HNF1A gene: A molecular approach concerning diabetic patients from southern Brazil. Genetics and Molecular Biology, 2012; 35(4), 737-740.
• Johansson, S., Irgens, H., Chudasama, K.K., Molnes, J., Aerts, J., et al. Exome sequencing and genetic testing for MODY. PLoS One 2012;7:e38050.
• Fajans, S.S., Bell, G.I., Polonsky, K.S., et al. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345: 971-980, 2001.
• Mohan, V., Radha, V., Nguyen, T.T., Stawiski, E.W., Pahuja, K.B., et al. Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. BMC Medical Genetics. 2018;19:22
• Yalçın Çapan, Ö., Aydın, N., Yılmaz, T. and Berber, E. Whole exome sequencing reveals novel candidate gene variants for MODY. Clinica Chimica Acta 510. 2020; 97–104.
• Anik, A., Catli, G., Abaci, A., Sari, E., Yesilkaya, E., Korkmaz, H. A., ve ark. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing. J Pediatr Endocrinol Metab, 2015; 28(11-12), 1265-1271. doi:10.1515/jpem-2014-0430
• Bozkurt, S., Arıkoğlu, H., Baldane, S. and İşcioğlu, F. Gestasyonel diyabet gelişiminde KCNJ11 geninin rolü. Genel Tıp Derg 2015;25:116-121
• Haliloglu, B., Hysenaj, G., Atay, Z., Guran, T., Abali, S., Turan, S., et al. GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. Clin Endocrinol (Oxf), 2016; 85(3), 393-399. doi:10.1111/cen.13121
• Karaca, E., Onay, H., Cetinkalp, S., Aykut, A., Goksen, D., Ozen, S., et al. The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population. Diabetes Metab Syndr, 2017; 11 Suppl 1, S491-S496. doi:10.1016/j.dsx.2017.03.042
• Aykut, A., Karaca, E., Onay, H., Goksen, D., Cetinkalp, S., Eren, E., et al. Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations. Gene, 2018; 641, 186-189. doi:10.1016/j.gene.2017.10.057
• Karaoğlan, M. and Nacarkahya, G. Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis. Journal of Diabetes. 2020;1–10. DOI: 10.1111/1753-0407.13097
• Anuradha, S., Radha, V. and Mohan, V. Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes. Clin Genet. 2011 Dec; 80(6):541–9. [PubMed: 21062274]
• Awa, W.L., Schober, E., Wiegand, S., Herwig, J., Meissner, T., Schmidt, F., ve ark. (2011) Reclassification of diabetes type in pediatric patients initially classified as type 2 diabetes mellitus: 15 years follow-up using routine data from the German/Austrian DPV database. Diabetes Research and Clinical Practice, 94, 463 – 467.
• Yorifuji, T., Fujimaru, R., Hosokawa, Y., et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes. 2012 Feb; 13(1):26–32. [PubMed: 22060211]
• Alvelos, M.I., Rodrigues, M., Lobo, L., Medeira, A., Sousa, A.B., et al. Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure. Medicine 94(7):e469. DOI: 10.1097/MD.0000000000000469
• Covantev, S., Chiriac, A., Perciuleac, L. ve Zozina, V. Maturity onset diabetes of the young: Diagnosis and treatment options, 2016; 5(4), e0402 DOI: 10.15275/rusomj.2016.0402
• İşleyen, F. and Bolu, S. Adıyaman İlindeki Diyabetik Çocukların Epidemiyolojik Özellikleri. JCP 2019;17(1):1-16.