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 differ-ent 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, Maria Paola; Delrosso, Lourdes M.; Bruni, Oliviero; Salemi, Michele; Salsone, Maria; Novellino, Fabiana; Zucconi, Marco; Ferini Strambi, Luigi; Ferri, Raffaele. - 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
Mogavero, Maria PaolaPrimo
;Salsone, Maria;Ferini Strambi, LuigiPenultimo
;
2023-01-01
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 differ-ent 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.