Long term cortical plasticity in visual retinotopic areas in humans with silent retinal ganglion cell loss

Visual cortical plasticity induced by overt retinal lesions (scotomas) has remained a controversial phenomenon. Here we studied cortical plasticity in a silent model of retinal ganglion cell loss, documented by in vivo optical biopsy using coherence tomography. The cortical impact of non-scotomatous subtle retinal ganglion cell functional and structural loss was investigated in carriers of the mitochondrial DNA 11778G > A mutation causing Leber's hereditary optic neuropathy. We used magnetic resonance imaging (MRI) to measure cortical thickness and fMRI to define retinotopic cortical visual areas V1, V2 and V3 in silent carriers and matched control groups. Repeated Measures analysis of variance revealed a surprising increase in cortical thickness in the younger carrier group (below 21 years of age). This effect dominated in extrastriate cortex, and notably V2. This form of structural plasticity suggests enhanced plastic developmental mechanisms in extrastriate retinotopic regions close to V1 and not receiving direct retinocortical input

Applicability of HRM analysis for carnaroli rice authentication based on polymorphisms of the waxy gene

Rice (Oryza sativa L.) is a staple food and one of the most important cereals in the worldwide. Italy, the leading rice producer in Europe, holds nearly 200 different varieties in the available germplosm [1]. The Carnaroli rice is a high quality and priced variety belonging to the group of ja ponica ecotype, produced mainly in Piedmont. it is considered one of the finest Italian rice varieties due to its excellent cooking resistance, given by a low tendency to lose starch and a good ability to absorb liquid while creaming, being, thus, ideal for the preparation of traditional risotto. Italian rice varieties hove different characteristics, from which the starch composition is a highly relevant parameter. Together with amylopectin, amylose is the main component of starch, whose ratio is determinant for the rice cooking properties. After cooking, varieties with high amylose content have dry, firm and separate groins, while low amylose ones usually hove tender, cohesive and glossy texture [2]. Amylose synthesis is catalysed by the granule bound starch synthase (GBSS) that is encoded by the Waxy gene (Wx), being located on the chromosome 6. Various nucleotide polymorphisms have been associated with the Wx gene, namely (CT)n repeats and several single nucleotide polymorphisms (SNP) [2]. The aim of this work was to propose a new method based on high resolution melting (HRM) analysis, exploiting those polymorphisms to differentiate Carnaroli rice from other closely related varieties.This work has been supported by the European project FOODINTEGRITY (FP7-KBBE- 2013-single-stage, No 613688), by FCT (Fundação para a Ciencia e Tecnologia) through project UID/QUI/50006/2013 - POCI/ 01/0145/FEDER/ 007265 with financial support from FCT /MEC through national funds and eo-financed by FED ER. under the Partnership Agreement PT2020 and by the project NORTE-01-0145-FEDER-000011. L. Grazina and J. Costa ore grateful to grants (SFRH/ BD/132462/2017 and SFRH/BPD/102404/2014, respectively) from FCT financed by POPH-QREN (subsidised by FSE and MCTES).info:eu-repo/semantics/publishedVersio

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.info:eu-repo/semantics/publishedVersio

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence of association of the SLC25A12 gene with lactate and lactate/pyruvate distributions or with autism in 241 nuclear families with one affected individual. We conclude that while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autism in this sample of autistic patients

Detection of soybean oil as a potential adulterant of argan oil based on a novel DNA approach

Argan oil is a non-refined vegetable oil obtained from the fruits of the argan tree (Argania spinosa L.) and produced almost exclusively in the southwestern Morocco, where the argan forest is found. Different grades of argan oil are available, namely edible/food and cosmetic grades, depending on the use of roasted or raw kernels, respectively. Argan oil is considered one of the most prized oils in the world, with its demand growing worldwide mainly due to its success as an ingredient in cosmetic products. In Europe, the price of the edible grade oil is also very high as it is perceived as a luxury product [1]. Being a premium product, argan oil is highly prone to adulteration by admixing with cheaper vegetable oils or even its total substitution. Therefore, it is important to develop methodologies that can be used in the control of the authenticity of pure argan oil. Considering that several factors can affect the chemical composition of the oil, in this work novel approaches based on DNA markers are proposed to detect the presence of soybean oil as adulterant of argan oil.This work was supported by FCT (Fundação para a Ciência e Tecnologia) through projects FCT/CNRST (Portugal/Morocco) (FCT/6460/6/6/2017/S), UID/QUI/50006/2013 – POCI/01/0145/FEDER/007265 with financial support from FCT/MEC through national funds and co-financed by FEDER, under the Partnership Agreement PT2020; by projects NORTE-01-0145-FEDER-000011 and FOODINTEGRITY (FP7-KBBE-2013-single-stage, No 613688). J. Costa, L. Grazina and C. Villa are grateful to FCT grants (SFRH/BPD/102404/2014, SFRH/BD/132462/2017 and PD/BD/114576/2016, respectively) financed by POPH-QREN (subsidised by FSE and MCTES).info:eu-repo/semantics/publishedVersio

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

background Transthyretin-related familial amyloid polyneuropathy (TTR-Fap Val30Met) shows a wide variation in age-at-onset (aO) between generations and genders, as in portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNa (mtDNa) copy number was assessed to clarify whether it has a modifier effect on aO variability in portuguese patients. Methods The mtDNa copy number of 262 samples (175 Val30Met TTR carriers and 87 controls (proven Val30Val)) was quantified by quantitative real-time pcR. statistical analysis was performed using IBM spss V.23 software. results This study shows that Val30Met TTR carriers have a significantly higher (p<0.001) mean mtDNa copy number than controls. Furthermore, the highest mtDNa copy number mean was observed in early-onset patients (aO <40 years). Importantly, early-onset offspring showed a significant increase (p=0.002) in the mtDNa copy number, when compared with their late aO parents. Conclusions The present findings suggest, for the first time, that mtDNa copy number may be associated with earlier events and may therefore be further explored as a potential biomarker for follow-up of TTR-Fap Val30Met carriers.DS and MA-F are recipients of an FCT fellowship (SFRH/BD /91160/2012 and SFRH/BD/101352/2014, respectively). Our funding sources supported the data collection and analysis, but did not play a role in the study design, in interpretation of data, in the writing of the report or in the decision to submit the paper for publication

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

We investigated the involvement of mitochondrial-dependent apoptosis in Huntington's disease (HD) vs. control (CTR) cybrids, obtained from the fusion of human platelets with mitochondrial DNA-depleted NT2 cells, and further exposed to 3-nitropropionic acid (3-NP) or staurosporine (STS). Untreated HD cybrids did not exhibit significant modifications in the activity of mitochondrial respiratory chain complexes I-IV or in mtDNA sequence variations suggestive of a primary role in mitochondrial susceptibility in the subpopulation of HD carriers studied. However, a slight decrease in mitochondrial membrane potential and increased formation of intracellular hydroperoxides was observed in HD cybrids under basal conditions. Furthermore, apoptotic nuclei morphology and a moderate increase in caspase-3 activation, as well as increased levels of superoxide ions and hydroperoxides were observed in HD cybrids upon 3-NP or STS treatment. 3-NP-evoked apoptosis in HD cybrids involved cytochrome c and AIF release from mitochondria, which was associated with mitochondrial Bax translocation. CTR cybrids subjected to 3-NP showed increased mitochondrial Bax and Bim levels and the release of AIF, but not cytochrome c, suggesting a different mode of cell death, linked to the loss of membrane integrity. Additionally, increased mitochondrial Bim and Bak levels, and a slight release of cytochrome c in untreated HD cybrids may help to explain their moderate susceptibility to mitochondrial-dependent apoptosi

SPORTS DEVELOPMENT ENVIRONMENT IN SWIMMING CLUBS: A PRELIMINARY STUDY ON PORTUGUESE SWIMMERS' PERCEPTIONS

The main purpose of this article was to analyse the perceptions of Portuguese swimmers about their context of sport development. We studied the perceptions of 207 Portuguese national level swimmers (Junior and Senior), both males and females, from 28 swimming clubs. The swimmers were differentiated into three groups, according to the club performance level. In this work was applied an adapted version of the Talent Development Environment Questionnaire for Sport (TDEQ), which revealed, statistically, as having an excellent (> .8) or satisfactory (> .6) reliability in 5 out of 7 factors. On the other hand, the commonalities linked to each variable show huge variance (between 0.04 and 0.768). Analysing the results about the swimmer's perceptions, data suggests that the sport development environment does not appear to be significantly different within the 28 Portuguese swimming clubs involved on different sporting divisions