Browsing by Author "Enguita, F.J."
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- Expression Profile of Circulating miRNAs in Autism Spectrum DisordersPublication . Rodrigues, A.C.; Conceição, I.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have not yet been identified. Epigenetic factors may additionally modulate the effect of genetic variants. ASD overlaps with other Neurodevelopmental Disorders (NDD), both in clinical aspects and in causative genetic variants, frequently rendering specific diagnosis difficult1,5. Here we hypothesize that, while genetic variants overlap in a large extent between NDDs, epigenetic factors may regulate the expression, activity or function of genetic factors, leading to the characteristic phenotypic presentation that differentiates ASD from other NDDs. To test this hypothesis, we addressed the role of epigenetic factors in ASD, focusing on microRNAs (miRNAs). These small noncoding RNA molecules negatively regulate gene expression, influencing many biological processes and, because they are released from pathological tissues to plasma in disease situations, may constitute useful biomarkers. We thus profiled miRNAs in plasma from ASD patients and patients with other NDDs.
- Expression Profile of Circulating miRNAs in Autism Spectrum Disorders Population samplePublication . Conceição, I.C.; Rodrigues, A.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common complex disorder, highly heterogeneous and with unclear etiology. While many different rare variants are known to be etiological factors for ASD, they don’t completely explain the genetic variance in this disorder, and common genetic variants could not, thus far, be identified. The possible contribution of epigenetic factors, such as deregulated miRNAs expression, should be addressed. miRNAs are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs. miRNAs play critical roles in several biological processes, and are associated with human pathology. Recent studies have suggested that miRNAs in plasma and serum might be derived from circulating blood cells under healthy conditions, but might be released from pathological tissues during illness. The strong correlation between circulating and tissue miRNAs indicates that circulating miRNAs might be biomarkers for diseases, including central nervous system disorders. We are currently assessing miRNA profiles in plasma from ASD patients and patients with other neurodevelopmental disabilities (eg. psychomotor developmental delay, intellectual disability, etc).
- miRNA and lncRNA gene variants in Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests; Median estimated prevalence worldwide is 17/10000; Male to female ratio: ~4:1; Comorbidities: intellectual disability, anxiety, epilepsy, (…).
- miRNA target-binding sites as regulators of genes involved in the lipid metabolism might explain the hypercholesterolaemia in FH patientsPublication . Medeiros, A.M.; Enguita, F.J.; Bourbon, M.Aims to analyze miRNAs target sites as regulators of genes involved in the lipid metabolism in FH mutation-negative patients.
- Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial HypercholesterolemiaPublication . Rossi, N.; Enguita, F.J.; Bourbon, MafaldaIntroduction: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels. Worldwide only 40 % of patients (FH+) with a clinical diagnosis of FH carry a mutation in any of the three genes (namely: LDLR, APOB, PCSK 9) that are currently known to be associated to the disease. We guess that the remaining 60 % of the patients (FH-) probably includes a high percentage of individuals with a polygenic form of dyslipidemia or an environmental form of hypercholesterolemia and a small percentage of individuals with mutations in some novel genes, never associated before with dyslipidemias. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease.
- Regulatory RNAs in Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.