Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington's disease.

Autor: Saiz-Rodríguez M; Research Unit, Fundación Burgos Por La Investigación de La Salud (FBIS), Hospital Universitario de Burgos, Avenida Islas Baleares 3, 09006, Burgos, Spain. msaiz@hubu.es.; Department of Health Sciences, University of Burgos, Burgos, Spain. msaiz@hubu.es., Gil-Polo C; Neurology Department, Hospital Universitario Burgos, Burgos, Spain., Diez-Fairen M; Fundació Per La Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain.; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain., Martinez-Horta SI; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain., Sampedro Santalo F; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain., Calvo S; Research Unit, Fundación Burgos Por La Investigación de La Salud (FBIS), Hospital Universitario de Burgos, Avenida Islas Baleares 3, 09006, Burgos, Spain., Alonso-García E; Radiology Department, Hospital Universitario Burgos, Burgos, Spain., Riñones-Mena E; Radiology Department, Hospital Universitario Burgos, Burgos, Spain., Aguado L; Neurology Department, Hospital Universitario Burgos, Burgos, Spain., Mariscal N; Neurology Department, Hospital Universitario Burgos, Burgos, Spain., Muñoz-Siscart I; Psychiatry Department, Hospital Universitario Burgos, Burgos, Spain., Piñeiro D; Psychiatry Department, Hospital Universitario Burgos, Burgos, Spain., Rivadeneyra J; Research Unit, Fundación Burgos Por La Investigación de La Salud (FBIS), Hospital Universitario de Burgos, Avenida Islas Baleares 3, 09006, Burgos, Spain., Cubo E; Department of Health Sciences, University of Burgos, Burgos, Spain.; Neurology Department, Hospital Universitario Burgos, Burgos, Spain.
Jazyk: angličtina
Zdroj: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Oct; Vol. 43 (10), pp. 6079-6085. Date of Electronic Publication: 2022 Jun 21.
DOI: 10.1007/s10072-022-06226-1
Abstrakt: Background: Huntington's disease (HD) is a neurodegenerative disorder characterized by cognitive, motor, and neuropsychiatric manifestations. Oxytocin is a neuropeptide studied for its role as a neuromodulator regulating multiple behaviors linked to social cognition. Genetic variation of oxytocin receptor (OXTR) might interact in the etiology and development of several impaired social behaviors. Our aim was to study OXTR polymorphisms and their relationship with apathy and social cognition in HD.
Methods: OXTR was sequenced in 21 cases and 22 controls. We assessed apathy, anxiety, depression, and irritability (Hospital Anxiety and Depression Scale-Snaith Irritability scale, HADS-SIS) and social cognition (Ekman 60 faces test), motor symptoms and functionality with the total functional capacity (TFC), and the Unified HD rating Scale (UHDRS).
Results: We identified ten variants in OXTR. Three variants were classified as possibly damaging (p.Arg40Gly) or probably damaging (p.Leu46Pro, p.Thr102Asn). Subjects carrying the wild-type genotype of the synonymous variant p.Val45 showed a significantly lower score in the HADS-SIS scale, related to lower irritability (p = 0.013). The only subject carrying the heterozygous genotype of the synonymous variant p.Leu62 showed a significantly higher score on Ekman scale, compared to wild-type (p = 0.049); however, this finding was not confirmed after bootstrapping.
Conclusion: Variations in OXTR could have a relevant role in the correct development of social and cognitive functions. Future approaches will include the molecular study of p.Arg40Gly, p.Leu46Pro, and p.Thr102Asn to confirm their pathogenicity, as well as the validation of the influence of p.Val45 and p.Leu62 variants for their involvement in irritability and social cognition in HD.
(© 2022. Fondazione Società Italiana di Neurologia.)
Databáze: MEDLINE
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