Pages: 28-33DOI: 10.51546/JSUM.2022.9204

Date of Publication: 30-Nov--0001

GENETIC ASPECTS IN TYPE 1 DIABETES MELLITUS

Author: Zara Radu

Category: Medical

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Abstract:

Diabetul zaharat (DZ) de tip 1 este considerat la ora actuala ca o afectiune autoimuna cu etiologie multifactoriala, produs de o interactiune complexa a mai multor factori genetici, epigenetici si de mediu, a caror consecinta este distructia progresiva a celulelor beta-pancreatice (cele care sintetizeaza insulina) si __ampersandsignicirc;n final, deficitul absolut de insulina endogena. Aproximativ 5-10% din toti pacientii cu diabet au diabet zaharat de tip 1. DZ de tip 1 este mediat imun __ampersandsignicirc;n peste 90% din cazuri si poate aparea la orice grupa de v__ampersandsignacirc;rsta, dar este cel mai frecvent la copii si adulti tineri, de asemenea are un grad ridicat de concordanta ridicata __ampersandsignicirc;n r__ampersandsignacirc;ndul gemenilor monozigoti (33 p__ampersandsignacirc;na la 42%) si se manifesta puternic __ampersandsignicirc;n familii (15% din cazurile de DZ prezinta agregare familiala) cu risc mare pentru rudele de gr I (6-7% familie vs 0,4% populatia generala) cu o amprenta parentala (7-8% tata-copil vs 2-4% mama-copil), riscul __ampersandsignicirc;ntre frati fiind de aproximativ 10 ori mai mare dec__ampersandsignacirc;t riscul __ampersandsignicirc;n populatia generala. Studiile geneticii DZ de tip 1 au dezvaluit contributia cheie a regiunii antigenului leucocitar uman (HLA) la susceptibilitatea DZ de tip 1, abordarile de familie si studiul genelor candidate au descoperit __ampersandsignicirc;nca cinci loci asociati cu DZ de tip 1, iar studiile de asociere la nivelul genomului (GWAS) a crescut numarul de loci la peste 60. Identificarea si studiul actiunii genelor de susceptibilitate pentru DZ de tip 1 ar putea sa puna __ampersandsignicirc;n evidenta depistarea precoce a prediabetului si formelor necomplicate dar si elaborarea unor noi tinte si strategii terapeutice si elaborarea unui plan de tratament personalizat.

Keywords: type 1 diabetes mellitus, genes, risk, genetic susceptibility

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