Search results for "Fenotip"
showing 10 items of 22 documents
Exposure to a Highly Caloric Palatable Diet During Pregestational and Gestational Periods Affects Hypothalamic and Hippocampal Endocannabinoid Levels…
2016
Journal Article; Exposure to unbalanced diets during pre-gestational and gestational periods may result in long-term alterations in metabolism and behavior. The contribution of the endocannabinoid system to these long-term adaptive responses is unknown. In the present study, we investigated the impact of female rat exposure to a hypercaloric-hypoproteic palatable diet during pre-gestational, gestational and lactational periods on the development of male offspring. In addition, the hypothalamic and hippocampal endocannabinoid contents at birth and the behavioral performance in adulthood were investigated. Exposure to a palatable diet resulted in low weight offspring who exhibited low hypotha…
Exceptional human longevity is associated with a specific plasma phenotype of ether lipids
2019
A lipid profile resistant to oxidative damage is an inherent trait associated with animal lifespan. However, there is a lack of lipidomic studies on human longevity. Here we use mass spectrometry based technologies to detect and quantify 137 ether lipids to define a phenotype of healthy humans with exceptional lifespan. Ether lipids were chosen because of their antioxidant properties and ability to modulate oxidative stress. Our results demonstrate that a specific ether lipid signature can be obtained to define the centenarian state. This profile comprises higher level of alkyl forms derived from phosphatidylcholine with shorter number of carbon atoms and double bonds; and decreased content…
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
2017
AbstractMutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more seve…
SNPs in bone-related miRNAs are associated with the osteoporotic phenotype
2017
AbstractBiogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) affecting the expression levels of bone-related mature microRNAs and thus, triggering an osteoporotic phenotype. An association analysis of SNPs located in pri-miRNA sequences with bone mineral density (BMD) was performed in the OSTEOMED2 cohort (n = 2183). Functional studies were performed for assessing the role of BMD-associated miRNAs in bone cells. Two SNPs, rs6430498 in the miR-3679 and rs12512664 in the miR-4274, were significantly associated with femoral neck BMD. Further, we…
2. tipa cukura diabēta pacientu individualizēta terapija un tās nozīmēšanas kritēriji atbilstoši fenotipam
2015
2.tipa cukura diabēts ir hroniska slimība,kuras izplatība strauji pieaug visā pasaulē.Neraugoties uz izstrādātām vadlīnijām ārstiem,kā sākt2.tipaCD ārstēšanu,ne visi pacienti sasniedz mērķa glikēmiju un glikēta hemoglobīna(HbA1c)līmeni.Izpētīti228akūti hospitalizēti 2.tipaCD pacienti,kuri ārstējās no2013.gada janvāra līdz2014.gada septembrim.Liela uzmanība pievērsta pacientu bioķīmiskajiem radītājiem:triglicerīdi(TG), c-peptīds,HbA1c,GFĀ,ĶMI,ārstam,kas ārstēja noteiktu pacientu,terapijas izvēlei,pacientam izrakstoties no stacionāra. Fenotipiski pacienti sadalīti četrās grupās.Pirmajā grupā bija73pacienti ar hronisku nieru slimību(GFĀ30 kg/m2),66cilvēki bija vecāka gadagājuma pacientu grupā(…
La Inhibición Pre-pulso como marcador psicofisiológico de la sensibilidad a los efectos reforzantes de la cocaína en ratones machos y hembras.
2015
La adicción a la cocaína se caracteriza por una persistente y alta susceptibilidad a la recaída, y hasta el momento, no existe ninguna terapia, ni psicológica ni farmacológica, eficaz para su tratamiento por lo que la prevención, tanto en el inicio del consumo como en la recaída, es un objetivo prioritario. El presente trabajo valora el endofenotipo de la Inhibición Pre- Pulso (IPP) del reflejo de sobresalto como marcador psicofisiológico para detectar los sujetos que presenten mayor vulnerabilidad a los efectos reforzantes de la cocaína. Para ello, en primer lugar, ratones clasificados según su mayor o menor IPP fueron evaluados en la adquisición, extinción y reinstauración del Condicionam…
Epigenetic differences arise during the lifetime of monozygotic twins.
2005
Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall…
Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to th…
2012
Background: Although the Fat Mass and Obesity (FTO) and Melanocortin-4 Receptor (MC4R) genes have been consistently associated with obesity risk, the association between the obesity-risk alleles with type 2 diabetes is still controversial. In some recent meta-analyses in which significant results have been reported, the associations disappeared after adjustment for body mass index (BMI). However gene-diet interactions with dietary patterns have not been investigated. Our main aim was to analyze whether these associations are modulated by the level of adherence to the Mediterranean Diet (MedDiet). Methods: Case-control study in 7,052 high cardiovascular risk subjects (3,430 type 2 diabetes c…
Estudio de la transformación fibroblasto-miofibroblasto, la senescencia y el metabolismo de fibroblastos aislados de pacientes con fibrosis pulmonar …
2021
La Fibrosis Pulmonar idiopática (FPI) está definida como una neumonía intersticial fibrosante crónica de causa desconocida, progresiva y fatal que afecta fundamentalmente a adultos mayores de 60 años, limitada a los pulmones y asociada con el patrón histopatológico de neumonía intersticial usual (NIU). La ausencia de manifestaciones específicas de la FPI supone un obstáculo para su detección temprana. Es una enfermedad de diagnóstico difícil y tardío, con un abordaje terapéutico de eficacia reducida. Estas características suscitan la necesidad de encontrar nuevos biomarcadores asociados a la fibrosis y nuevas dianas terapéuticas para un diagnóstico temprano e incrementar la calidad y espera…
Fābri slimība Latvijā: fenotipa - genotipa korelācija
2017
Ievads. Andersona-Fābri slimība ir reta iedzimta lizosomālās uzkrāšanās slimība, ko izraisa mutācijas GLA gēnā un traucēta enzīmā α-galaktozidāzes A darbība. Līdz 2015. gadam Latvijā vēl nebija atklāts neviens pacients ar Fābri slimības diagnozi, bet šobrīd jau ir atrasti vairāk nekā 20 cilvēki ar GLA gēna mutācijām. Darba mērķi. Apkopot un analizēt klīnisko informāciju par Latvijā esošajiem pacientiem ar laboratoriski apstiprinātām mutācijām GLA gēnā, veidot šo datu statistisku pārskatu, kā arī raksturot noteiktu mutāciju radītās Fābri slimības fenotipiskās izpausmes un atrast iespējamas fenotipa-genotipa korelācijas. Darba metodes. Pētījumā iekļautas pilngadīgas personas ar ģenētiski apst…