Herein we focus on connections between genetics and some central disorders of hypersomnolence – narcolepsy types 1 and 2 (NT1, NT2), idiopathic hypersomnia (IH), and Kleine–Levin syndrome (KLS) – for a better understanding of their etiopathogenetic mechanisms and a better diagnostic and therapeutic definition. Gene pleiotropism influences neurological and sleep disorders such as hypersomnia; therefore, genetics allows us to uncover common pathways to different pathologies, with potential new therapeutic perspectives. An important body of evidence has accumulated on NT1 and IH, allowing a better understanding of etiopathogenesis, disease biomarkers, and possible new therapeutic approaches. Further studies are needed in the field of epigenetics, which has a potential role in the modulation of biological specific hypersomnia pathways.
Genetics and epigenetics of rare hypersomnia / Mogavero, M. P.; Delrosso, L. M.; Bruni, O.; Salemi, M.; Salsone, M.; Novellino, F.; Zucconi, M.; Ferini Strambi, L.; Ferri, R.. - In: TRENDS IN GENETICS. - ISSN 0168-9525. - 39:5(2023), pp. 415-429. [10.1016/j.tig.2023.02.003]
Genetics and epigenetics of rare hypersomnia
Bruni O.;
2023
Abstract
Herein we focus on connections between genetics and some central disorders of hypersomnolence – narcolepsy types 1 and 2 (NT1, NT2), idiopathic hypersomnia (IH), and Kleine–Levin syndrome (KLS) – for a better understanding of their etiopathogenetic mechanisms and a better diagnostic and therapeutic definition. Gene pleiotropism influences neurological and sleep disorders such as hypersomnia; therefore, genetics allows us to uncover common pathways to different pathologies, with potential new therapeutic perspectives. An important body of evidence has accumulated on NT1 and IH, allowing a better understanding of etiopathogenesis, disease biomarkers, and possible new therapeutic approaches. Further studies are needed in the field of epigenetics, which has a potential role in the modulation of biological specific hypersomnia pathways.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.