Exploring the genetic basis of childhood monogenic diabetes

被引:0
|
作者
Sanyal, Debmalya [1 ,2 ,3 ]
机构
[1] KPC Med Coll, Dept Endocrinol, 1F Raja Subodh Chandra Mullick Rd, Kolkata 700032, West Bengal, India
[2] NH RTIICS, Dept Endocrinol, Kolkata 700099, West Bengal, India
[3] Univ New Castle, Sch Med, Callaghan, NSW 2308, Australia
关键词
Monogenic diabetes; Genetic mutation; Insulin resistance; Beta-cell function; Diabetes mellitus; PRECISION; POPULATION;
D O I
10.4239/wjd.v15.i9.1829
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Monogenic diabetes is caused by one or even more genetic variations, which may be uncommon yet have a significant influence and cause diabetes at an early age. Monogenic diabetes affects 1% to 5% of children, and early detection and genetically focused treatment of neonatal diabetes and maturity-onset diabetes of the young can significantly improve long-term health and well-being. The etiology of monogenic diabetes in childhood is primarily attributed to genetic variations affecting the regulatory genes responsible for beta-cell activity. In rare instances, mutations leading to severe insulin resistance can also result in the development of diabetes. Individuals diagnosed with specific types of monogenic diabetes, which are commonly found, can transition from insulin therapy to sulfonylureas, provided they maintain consistent regulation of their blood glucose levels. Scientists have successfully devised materials and methodologies to distinguish individuals with type 1 or 2 diabetes from those more prone to monogenic diabetes. Genetic screening with appropriate findings and interpretations is essential to establish a prognosis and to guide the choice of therapies and management of these interrelated ailments. This review aims to design a comprehensive literature summarizing genetic insights into monogenetic diabetes in children and adolescents as well as summarizing their diagnosis and management.
引用
收藏
页数:5
相关论文
共 50 条
  • [21] Many faces of monogenic diabetes
    Schwitzgebel, Valerie M.
    JOURNAL OF DIABETES INVESTIGATION, 2014, 5 (02) : 121 - 133
  • [22] Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young
    Demirci, Deniz Kanca
    Darendeliler, Feyza
    Poyrazoglu, Sukran
    Al, Asli Derya Kardelen
    Gul, Nurdan
    Tutuncu, Yildiz
    Gulfidan, Gizem
    Arga, Kazim Yalcin
    Cacina, Canan
    Ozturk, Oguz
    Aydogan, Hulya Yilmaz
    Satman, Ilhan
    OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY, 2021, 25 (07) : 431 - 449
  • [23] Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
    S. Ellard
    H. Lango Allen
    E. De Franco
    S. E. Flanagan
    G. Hysenaj
    K. Colclough
    J. A. L. Houghton
    M. Shepherd
    A. T. Hattersley
    M. N. Weedon
    R. Caswell
    Diabetologia, 2013, 56 : 1958 - 1963
  • [24] Precision diabetes: learning from monogenic diabetes
    Hattersley, Andrew T.
    Patel, Kashyap A.
    DIABETOLOGIA, 2017, 60 (05) : 769 - 777
  • [25] Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
    Ellard, S.
    Allen, H. Lango
    De Franco, E.
    Flanagan, S. E.
    Hysenaj, G.
    Colclough, K.
    Houghton, J. A. L.
    Shepherd, M.
    Hattersley, A. T.
    Weedon, M. N.
    Caswell, R.
    DIABETOLOGIA, 2013, 56 (09) : 1958 - 1963
  • [26] Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
    Kashyap A. Patel
    Mehmet N. Ozbek
    Melek Yildiz
    Tulay Guran
    Cemil Kocyigit
    Sezer Acar
    Zeynep Siklar
    Muge Atar
    Kevin Colclough
    Jayne Houghton
    Matthew B. Johnson
    Sian Ellard
    Sarah E. Flanagan
    Filiz Cizmecioglu
    Merih Berberoglu
    Korcan Demir
    Gonul Catli
    Serpil Bas
    Teoman Akcay
    Huseyin Demirbilek
    Michael N. Weedon
    Andrew T. Hattersley
    Diabetologia, 2022, 65 : 336 - 342
  • [27] Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population
    Rafique, Ibrar
    Mir, Asif
    Siddiqui, Shajee
    Saqib, Muhammad Arif Nadeem
    Fawwad, Asher
    Marchand, Luc
    Adnan, Muhammad
    Naeem, Muhammad
    Basit, Abdul
    Polychronakos, Constantin
    WORLD JOURNAL OF DIABETES, 2021, 12 (11)
  • [28] Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation
    Lezzi, Marilea
    Aloi, Concetta
    Salina, Alessandro
    Fragola, Martina
    Bassi, Marta
    Strati, Marina Francesca
    d'Annunzio, Giuseppe
    Minuto, Nicola
    Maghnie, Mohamad
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [29] Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign
    Fendler, W.
    Borowiec, M.
    Baranowska-Jazwiecka, A.
    Szadkowska, A.
    Skala-Zamorowska, E.
    Deja, G.
    Jarosz-Chobot, P.
    Techmanska, I.
    Bautembach-Minkowska, J.
    Mysliwiec, M.
    Zmyslowska, A.
    Pietrzak, I.
    Malecki, M. T.
    Mlynarski, W.
    DIABETOLOGIA, 2012, 55 (10) : 2631 - 2635
  • [30] Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign
    W. Fendler
    M. Borowiec
    A. Baranowska-Jazwiecka
    A. Szadkowska
    E. Skala-Zamorowska
    G. Deja
    P. Jarosz-Chobot
    I. Techmanska
    J. Bautembach-Minkowska
    M. Mysliwiec
    A. Zmyslowska
    I. Pietrzak
    M. T. Malecki
    W. Mlynarski
    Diabetologia, 2012, 55 : 2631 - 2635