Advancing the understanding of autism disease mechanisms through genetics

de la Torre-Ubieta, Luis,Won, Hyejung,Stein, Jason L,Geschwind, Daniel H Nature Publishing Group, a division of Macmillan P 2016 Nature medicine Vol.22 No.4

Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has fueled remarkable advances in our understanding of its potential neurobiological mechanisms. Yet, at the same time, these findings highlight extraordinary causal diversity and complexity at many levels ranging from molecules to circuits and emphasize the gaps in our current knowledge. Here we review current understanding of the genetic architecture of ASD and integrate genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology. Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies.

Long-Term Evolution of the Electrical Stimulation Levels for Cochlear Implant Patients

Jose Luis Vargas,Manuel Sainz,Cristina Roldan,Isaac Alvarez,Angel de la Torre 대한이비인후과학회 2012 Clinical and Experimental Otorhinolaryngology Vol.5 No.4

imObjectives. The stimulation levels programmed in cochlear implant systems are affected by an evolution since the first switch-on of the processor. This study was designed to evaluate the changes in stimulation levels over time and the relationship between post-implantation physiological changes and with the hearing experience provided by the continuous use of the cochlear implant. Methods. Sixty-two patients, ranging in age from 4 to 68 years at the moment of implantation participated in this study. All subjects were implanted with the 12 channels COMBI 40+ cochlear implant at San Cecilio University Hospital, Granada,Spain. Hearing loss etiology and progression characteristics varied across subjects. Results. The analyzed programming maps show that the stimulation levels suffer a fast evolution during the first weeks after the first switch-on of the processor. Then, the evolution becomes slower and the programming parameters tend to be stable at about 6 months after the first switch-on. The evolution of the stimulation levels implies an increment of the electrical dynamic range, which is increased from 15.4 to 20.7 dB and improves the intensity resolution. A significant increment of the sensitivity to acoustic stimuli is also observed. For some patients, we have also observed transitory changes in the electrode impedances associated to secretory otitis media, which cause important changes in the programming maps. Conclusion. We have studied the long-term evolution of the stimulation levels in cochlear implant patients. Our results show the importance of systematic measurements of the electrode impedances before the revision of the programming map. This report also highlights that the evolution of the programming maps is an important factor to be considered in order to determine an adequate calendar fitting of the cochlear implant processor.

Montmorillonite clay intercalated with nanoparticles for hydrogen storage

Fabiola Campos,Luis de la Torre,Manuel Román,A. García,A. Aguilar Elguézabal 한양대학교 세라믹연구소 2008 Journal of Ceramic Processing Research Vol.9 No.5

According to the expectations around the world concerning future of energy sources, hydrogen will be in a few years the most important energy carrier for stationary and mobile applications. Hydrogen storage is the bottleneck on the race to commercialize technologies based on the use of hydrogen, and specifically for mobile applications, the research goal for 2010 is to develop a device with at least 6% w/w of storage capacity. Highly porous carbon-based materials are among the most promising materials, with Carbon Molecular Sieves CMS) and Carbon Nanotubes (CNT) the most studied. In both cases materials are structured in such a way that hydrogen must diffuse along channels (micropores) where walls represent a restriction for the adsorption/desorption cycle. In this study, an alternative material is prepared by separation of clay layers with silica nanoparticles of diameter around 12 nm. The hydrogen storage capacity increased from 0.12 for untreated clay to 0.40% w/w for nanoassembled clay, measured at 77 K and atmospheric pressure, and according to intercalated clay characterization, almost all the surface available on the clay was exposed for adsorption. According to the expectations around the world concerning future of energy sources, hydrogen will be in a few years the most important energy carrier for stationary and mobile applications. Hydrogen storage is the bottleneck on the race to commercialize technologies based on the use of hydrogen, and specifically for mobile applications, the research goal for 2010 is to develop a device with at least 6% w/w of storage capacity. Highly porous carbon-based materials are among the most promising materials, with Carbon Molecular Sieves CMS) and Carbon Nanotubes (CNT) the most studied. In both cases materials are structured in such a way that hydrogen must diffuse along channels (micropores) where walls represent a restriction for the adsorption/desorption cycle. In this study, an alternative material is prepared by separation of clay layers with silica nanoparticles of diameter around 12 nm. The hydrogen storage capacity increased from 0.12 for untreated clay to 0.40% w/w for nanoassembled clay, measured at 77 K and atmospheric pressure, and according to intercalated clay characterization, almost all the surface available on the clay was exposed for adsorption.

Chromosome conformation elucidates regulatory relationships in developing human brain

Won, Hyejung,de la Torre-Ubieta, Luis,Stein, Jason L.,Parikshak, Neelroop N.,Huang, Jerry,Opland, Carli K.,Gandal, Michael J.,Sutton, Gavin J.,Hormozdiari, Farhad,Lu, Daning,Lee, Changhoon,Eskin, Elea Nature Publishing Group 2016 Nature Vol. No.

Three-dimensional physical interactions within chromosomes dynamically regulate gene expression in a tissue-specific manner. However, the 3D organization of chromosomes during human brain development and its role in regulating gene networks dysregulated in neurodevelopmental disorders, such as autism or schizophrenia, are unknown. Here we generate high-resolution 3D maps of chromatin contacts during human corticogenesis, permitting large-scale annotation of previously uncharacterized regulatory relationships relevant to the evolution of human cognition and disease. Our analyses identify hundreds of genes that physically interact with enhancers gained on the human lineage, many of which are under purifying selection and associated with human cognitive function. We integrate chromatin contacts with non-coding variants identified in schizophrenia genome-wide association studies (GWAS), highlighting multiple candidate schizophrenia risk genes and pathways, including transcription factors involved in neurogenesis, and cholinergic signalling molecules, several of which are supported by independent expression quantitative trait loci and gene expression analyses. Genome editing in human neural progenitors suggests that one of these distal schizophrenia GWAS loci regulates FOXG1 expression, supporting its potential role as a schizophrenia risk gene. This work provides a framework for understanding the effect of non-coding regulatory elements on human brain development and the evolution of cognition, and highlights novel mechanisms underlying neuropsychiatric disorders.

Evaluation of the effect of a school garden as an educational didactic tool in vegetable and fruit consumption in teenagers

Diana Gabriela Figueroa-Pina,Jorge Luis Chavez-Servin,Karina de la Torre-Carbot,Maria del Carmen Caamano-Perez,Gabriela Lucas-Deecke,Patricia Roitman-Genoud,Laura Regina Ojeda-Navarro 한국영양학회 2021 Nutrition Research and Practice Vol.15 No.2

BACKGROUND/OBJECTIVES: Increasing the consumption of vegetables and fruits in Mexico remains a challenge. Promoting sustainable food production systems through schools may be an effective way to educate young people about food and nutrition issues. A study of nutritional education in adolescents, based on the school garden, is necessary in order to evaluate its effects on the consumption of fruits and vegetables among middle- and upper-income segments of the population. The objective of this study was to evaluate the effect of an educational intervention, accompanied by a school garden as an educational teaching tool, to improve vegetable and fruit consumption by Mexican teenagers attending a private middle/high school. SUBJECTS/METHODS: Teenagers between 12 and 18 years of age (n = 126) attending a private middle/high school in Queretaro, Mexico participated in a 3-arm, controlled, comparative impact study using a vegetable and fruit consumption frequency questionnaire, food consumption diaries, a psychosocial factor assessment questionnaire of vegetable and fruit consumption, and structured interviews. The participants were randomized into 3 experimental groups: 1) food education + school garden (FE + SG), 2) FE only, and 3) control group (CG). RESULTS: The FE + SG and FE groups significantly increased the frequency and daily intake of vegetables and fruits compared to the CG. The FE + SG group showed greater understanding of, reflection upon, and analysis of the information they received about vegetable and fruit consumption, as well as a greater willingness to include these in their daily diet. CONCLUSIONS: FE accompanied by a SG as a teaching tool is more effective at promoting vegetable and fruit consumption than either education alone or control in teenagers in middle-upper income segments of the population.

Neonatal Mice Spinal Cord Interneurons Send Axons through the Dorsal Roots

Osuna-Carrasco Laura Paulina,Dueñas-Jiménez Sergio Horacio,Toro-Castillo Carmen,De la Torre Braniff,Aguilar-García Irene,Alpirez Jonatan,Castillo Luis,Dueñas-Jiménez Judith Marcela 한국뇌신경과학회 2022 Experimental Neurobiology Vol.31 No.2

Spontaneous interneuron activity plays a critical role in developing neuronal networks. Discharges conducted antidromically along the dorsal root (DR) precede those from the ventral root’s (VR) motoneurons. This work studied whether spinal interneurons project axons into the neonate’s dorsal roots. Experiments were carried out in postnatal Swiss-Webster mice. We utilized a staining technique and found that interneurons in the spinal cord’s dorsal horn send axons through the dorsal roots. In vitro electrophysiological recordings showed antidromic action potentials (dorsal root reflex; DRR) produced by depolarizing the primary afferent terminals. These reflexes appeared by stimulating the adjacent dorsal roots. We found that bicuculline reduced the DRR evoked by L5 dorsal root stimulation when recording from the L4 dorsal root. Simultaneously, the monosynaptic reflex (MR) in the L5 ventral root was not affected; nevertheless, a long-lasting after-discharge appeared. The addition of 2-amino-5 phosphonovaleric acid (AP5), an NMDA receptor antagonist, abolished the MR without changing the after-discharge. The absence of DRR and MR facilitated single action potentials in the dorsal and ventral roots that persisted even in low Ca2+ concentrations. The results suggest that firing interneurons could send their axons through the dorsal roots. These interneurons could activate motoneurons producing individual spikes recorded in the ventral roots. Identifying these interneurons and the persistence of their neuronal connectivity in adulthood remains to be established.