Vocalisation as a Viable Assessment for Phenotyping Minipigs Transgenic for the Huntington Gene?

Autor:	Sarah Schramke, Robin Schubert, Michaela Fels, Lorena Rieke, Ralf Reilmann, Tamara Matheis, Nicole Kemper, Lisa M. Muratori, Verena Schuldenzucker, Jan Motlik
Rok vydání:	2018
Předmět:	0301 basic medicine Huntington gene Time Factors Swine Transgene Reversal Learning Disease Group comparison Bioinformatics Animals Genetically Modified 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Discrimination Psychological Behavioural testing Huntington's disease Tongue medicine Animals Humans Longitudinal Studies Huntingtin Protein business.industry medicine.disease Disease Models Animal 030104 developmental biology Huntington Disease Phenotype Motor Skills Swine Miniature Female Neurology (clinical) Vocalization Animal business Disease manifestation 030217 neurology & neurosurgery Color Perception Large animal
Zdroj:	Journal of Huntington's disease. 7(3)
ISSN:	1879-6400
Popis:	BACKGROUND Large animal models, such as the transgenic (tg) Huntington disease (HD) minipig, have been proposed to improve translational reliability and assessment of safety, efficacy and tolerability in preclinical studies. Minipigs are characterised by high genetic homology and comparable brain structures to humans. In addition, behavioural assessments successfully applied in humans could be explored in minipigs to establish similar endpoints in preclinical and clinical studies. Recently, analysis of voice and speech production was established to characterise HD patients. OBJECTIVE The aim of this study was to investigate whether vocalisation could also serve as a viable marker for phenotyping minipigs transgenic for Huntington's disease (tgHD) and whether tgHD minipigs reveal changes in this domain compared to wildtype (wt) minipigs. METHODS While conducting behavioural testing, incidence of vocalisation was assessed for a cohort of 14 tgHD and 18 wt minipigs. Statistical analyses were performed using Fisher's Exact Test for group comparisons and McNemar's Test for intra-visit differences between tgHD and wt minipigs. RESULTS Vocalisation can easily be documented during phenotyping assessments of minipigs. Differences in vocalisation incidences across behavioural conditions were detected between tgHD and wt minipigs. Influence of the genotype on vocalisation was detectable during a period of 1.5 years. CONCLUSION Vocalisation may be a viable marker for phenotyping minipigs transgenic for the Huntington gene. Documentation of vocalisation provides a non-invasive opportunity to capture potential disease signs and explore phenotypic development including the age of disease manifestation.
Databáze:	OpenAIRE
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