GENETIC FACTORS ASSOCIATED WITH THE DEVELOPMENT OF NEUROPATHY IN TYPE 2 DIABETES
Tordai Dóra Zsuzsanna
KÁROLY RÁCZ CONSERVATIVE MEDICINE PROGRAM
Dr. Reusz György
Semmelweis Egyetem Belgyógyászati és Onkológiai Klinika Budapest, előadóterem
2024-11-28 10:00:00
Anyagcsere betegségek
Dr. Lakatos Péter
Dr. Putz Zsuzsanna
Dr. Kis János Tibor
Dr. Nagy Géza
Dr. Karádi István
Dr. Hosszúfalusi Nóra
Dr. Nádas Judit
Diabetic polyneuropathy is a complication with a significant impact on morbidity and mortality in diabetic patients. Its occurrence shows significant individual variations, which may not be associated with adequate metabolic control, suggesting a pathogenic role of genetic background. Although the information available on biomarkers of diabe-tic polyneuropathy is limited, several studies support genetic susceptibility. In our stu-dy, 24 long-term type 2 diabetic patients with neuropathy and 24 long-term type 2 dia-betic patients without neuropathy underwent detailed neurological assessment and who-le exome sequencing. We could successfully identify genetic variants that might alter the risk of developing diabetic neuropathy. The rs604349 is an intronic SNP in MYBPHL (myosin binding protein H like) gene that seems to aggravate the risk for neu-ropathy. This gene has been linked to circulating progranulin. The rs2032930/rs2032931 are intronic SNPs found in RMI2 (recQ-mediated genome instability protein 2) gene, and appeared to increase the risk of developing neuropathy. In our study, rs917778 and rs2234753 were accompanied with reduced risk for diabetic neuropathy. The rs917778 is also an intronic SNP in MVB12B (multivesicular body subunit 12B) gene. Another genetic variant with reduced risk for diabetic neuropathy is rs2234753. It is also an int-ronic SNP in the RXRA (retinoic acid X receptor alpha) gene. In summary all 5 SNPs that have been demonstrated to interfere with the risk of diabetic neuropathy in our stu-dy can be found in an intronic region of the genes, i.e. they do not get transcribed. Ne-vertheless, these variants might be parts of the regulating systems at higher levels that indirectly influence pathophysiological processes that may affect the development of neuropathy. In the future, the identification of specific genetic markers associated with diabetic polyneuropathy holds great promise for improving diagnostic accuracy, risk prediction, and the development of targeted therapeutic interventions. By unravelling the genetic background of diabetic polyneuropathy, researchers aim to not only improve our understanding of this complication but also prepare the way for personalized medi-cal approaches that may lead to more effective treatments and management strategies for individuals affected by diabetic neuropathy. In conclusion, investigating the genetic sensitivity to diabetic polyneuropathy is important for advancing our knowledge of this complicated complication, eventually aiming to improve patient outcomes and quality of life through precision treatment approaches.
