RESUMO
We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1, and HTT) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2, ATXN2 and ATXN3, and ATXN2 and CACNA1A. Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases.
Assuntos
Genes Dominantes/genética , Predisposição Genética para Doença/genética , Proteínas do Tecido Nervoso/genética , Doença de Parkinson/genética , Peptídeos/genética , Sequências Repetitivas de Aminoácidos/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Ataxinas , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Our aim is to determine the relationship between heart rate and behavioral states of a fetal goat using power spectral analysis. Electrocardiograms, electrocortical activity, and fetal breathing movements are recorded from 7 goat fetuses during extrauterine incubation. The heart rate power spectrum is classified into very low, low, and high frequency bands, and behavioral states are classified into low-voltage electrocortical activity with fetal breathing movements (LVB), low-voltage electrocortical activity without fetal breathing movements (LVN), and high-voltage electrocortical activity (HVN). There is a significant difference in total power spectral density in the high frequency band between LVN and HVN, and LVN and LVB. The relationship between each fetal behavioral state is assessed by power spectral analysis.
Assuntos
Técnicas Eletrofisiológicas Cardíacas/métodos , Feto/fisiologia , Frequência Cardíaca/fisiologia , Animais , Sistema Nervoso Autônomo/fisiologia , Cabras , Incubadoras , Monitorização Fisiológica/métodos , RespiraçãoRESUMO
AIM: To investigate the effect of hypoxia on the auditory system in fetuses, we attempted to analyze the auditory brainstem response, the middle latency response, and changes of several physiological parameters of goat fetuses during extrauterine incubation. METHODS: We conducted extrauterine incubation of five goat fetuses at around 127days of gestation (term = 148 days). Their physiological parameters, such as fetal heart rate, mean blood pressure, flow rate of carotid artery, as well as the auditory brainstem response and middle latency response, were recorded prior to and during hypoxia, and the two sets of data were compared with each other. RESULTS: In all five cases, the fetal heart rate decreased from 178 +/- 12.2 b.p.m. to 144 +/- 15.2 b.p.m. during hypoxia, while mean blood pressure and flow rate of carotid artery increased from 37.3 +/- 3.7 mmHg to 43.2 +/- 5.1 mmHg, and from 38.5 +/- 5.5mL/min to 47.0 +/- 5.1 mL/min, respectively. The latency of the auditory brainstem response's wave V and of the middle latency response's Pa wave elongated from 5.24 +/- 0.24 ms to 5.69 +/- 0.20 ms, and from 19.2 +/- 1.6 ms to 20.9 +/- 1.4 ms, respectively. CONCLUSIONS: Although fetal compensatory reactions, such as increases in mean blood pressure and flow rate of carotid artery during hypoxia were recognized, elongation of latency, and decrement of amplitude were observed in the auditory brainstem response and middle latency response. These results suggest that hypoxia itself influences the auditory system of the fetus.
