NOZOLOGICAL HETEROGENEITY, MOLECULAR GENETICS AND IMMUNOLOGY OF AUTOIMMUNE DIABETES MELLITUS

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Abstract

Article is devoted to the review of literature data, and also the analysis of results of own researches concerning genetics, molecular genetics and immunological violations at various forms of the autoimmune diabetes (DM) including classical T1DM, LADA type and an autoimmune polyglandular syndrome of 1 type (APS1). In case of T1DM more than 80% of patients are carriers of one or two strongest predisposing haplotypes: DRB1*O4-DQA1*O3O1-DQB1*O3O2 and DRB1*O3-DQA1*O5O1- DQB1*O201 designated as DQ2 and DQ8. HLA genes can model a clinical features of disease. In Russian population, the children with diabetes manifestation up to 5-year age has significantly often high risk genotypes (DQ2/DQ8) and significantly less the low risk genotypes in comparison with children, who had manifestation of T1DM in 10 years and later. The long-term
16-years family studies showed the maximum frequency of T1DM in high risk group, constantly accruing in process of increase in term of supervision, and in groups of an average and low risk lower and invariable. The highest risk of T1DM manifestation, reaching 90% at 10 years of supervision is defined by existence of HLA high risk genotypes and many antibodies, revealed from early age. LADA ― the hybrid form of autoimmune DM having signs of T1DM and T2DM in the basis. The development of autoimmune process against β-cells can be caused by only gene mutation (APS1). The part of T1DM cases which doesn't have the contributing HLA genes and autoimmune markers in process of studying of the importance of various genes and their biological value can be attributed to new, yet unknown forms of DM.

 

About the authors

I. I. Dedov

Endocrinology Research Centre, Moscow, Russian Federation
Sechenov First Moscow State Medical University, Russian Federation

Author for correspondence.
Email: dedov@endocrincentr.ru

академик РАН, директор Эндокринологического научного центра
Адрес: 117036, Москва, ул. Дмитрия Ульянова, д. 11, тел.: +7 (495) 500-00-91

Россия

M. V. Shestakova

Endocrinology Research Centre, Moscow, Russian Federation
Sechenov First Moscow State Medical University, Russian Federation

Email: nephro@endocrincentr.ru

доктор медицинских наук, профессор, член-корреспондент РАМН, директор
Института диабета Эндокринологического научного центра
Адрес: 117036, Москва, ул. Дмитрия Ульянова, д. 11, тел.: +7 (499) 124-45-00

Россия

T. L. Kuraeva

Endocrinology Research Centre, Moscow, Russian Federation
Sechenov First Moscow State Medical University, Russian Federation

Email: endiab@mail.ru

доктор медицинских наук, главный научный сотрудник, заведующая детским отделе-
нием сахарного диабета Института детской эндокринологии Эндокринологического научного центра
Адрес: 117036, Москва, ул. Дмитрия Ульянова, д. 11, тел.: +7 (495) 668-20-63

Россия

E. V. Titovich

Endocrinology Research Centre, Moscow, Russian Federation

Email: lenatitovich@mail.ru

кандидат медицинских наук, ведущий научный сотрудник детского отделения сахарного
диабета Института детской эндокринологии Эндокринологического научного центра
Адрес: 117036, Москва, ул. Дмитрия Ульянова, д. 11, тел.: +7 (499) 124-45-40

Россия

T. V. Nikonova

Endocrinology Research Centre, Moscow, Russian Federation

Email: tatiana_nikonova@mail.ru

доктор медицинских наук, ведущий научный сотрудник Отделения программного
обучения и лечения Эндокринологического научного центра
Адрес: 117036, Москва, ул. Дмитрия Ульянова, д. 11, тел.: +7 (499) 500-01-44

Россия

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