RESUMO
The effect of the glow discharge cold plasma pretreatment (CPT) was investigated on the ultrasound-assisted extraction (UAE) of phenolic compounds from sea asparagus Salicornia neei. The extract was applied in dry fermented sausage (Italian salami). Thermal extraction methods demand a long processing time, are highly energy-consuming and cause irreversible nutrient losses. It was found that CPT (discharge power of 14 W for 5 min) prior to UAE increased the antioxidant activity by 22% and 19% measured by the DPPH and ABTS assays, respectively. The S. neei extract showed high antioxidant activity, low antimicrobial activity, and was added to salami formulations with reduced-sodium nitrite content and no addition of sodium erythorbate. Despite a slight color change, lipid oxidation and texture parameters were similar to the control at the end of ripening. Furthermore, higher antioxidant activity was observed in S. neei extract supplemented salami with no impact on its sensory overall acceptability, indicating its potential as a natural alternative to synthetic additives.
Assuntos
Produtos da Carne , Gases em Plasma , Antioxidantes , Itália , Produtos da Carne/análise , Extratos VegetaisRESUMO
PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters and recent studies linked SLC20A2 mutations with primary brain calcifications. MicroRNAs (miRNAs) are endogenous noncoding regulatory RNAs and MicroRNA-9 (miR-9) modulates neurogenesis but is also involved with different types of cancer. We evaluated possible interactions between miR-9 and the phosphate transporters (PiT1 and PiT2). SLC20A2, platelet-derived growth factor receptor beta (PDGFRB) and Fibrillin-2 (FBN2) showed binding sites with high affinity for mir-9, In silico. miR-9 mimic was transfected into HEK293 cells and expression was confirmed by RT-qPCR. Overexpression of miR-9 in these cells caused a significant reduction in PiT2 and FBN2. PDGFRB appeared to be decreased, but was not significantly down-regulated. PiT1 showed no significant difference relative to controls. The down-regulation of PiT2 protein by miR-9 was confirmed by western blotting. In conclusion, we showed that miR-9 can down-regulate PiT2, in HEK293 cells. [corrected].
Assuntos
Regulação para Baixo , MicroRNAs/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Células HEK293 , Humanos , MicroRNAs/metabolismo , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/metabolismoRESUMO
The abnormal deposition of amyloid-ß protein in the brain plays an important role in Alzheimer's disease (AD), being considered a potential clinical biomarker. To investigate genetic associations with amyloid-ß we used biomarker data and genome-wide variants from individuals with AD and mild cognitive impairment in the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. We used a standard linear model and retested the associations with a mixed linear model to correct the residual sample structure. Both methods' results showed two identical significant SNPs associated with the A ß-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. Extending our analysis, we considered possible candidate genes mapped to SNPs with p-value ≥ 1 × 10-6 to explore gene-set enrichment e gene-gene network analysis, which reveals genes related to synaptic transmission, transmission of nerve impulses, cell-cell signaling and neurological processes. These genes require fine mapping and replication studies to allow more detailed understanding of how they may contribute to the genetic architecture of AD.
Assuntos
Doença de Alzheimer/genética , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Apolipoproteína C-I/genética , Proteínas de Membrana Transportadoras/genética , Fragmentos de Peptídeos/líquido cefalorraquidiano , Polimorfismo de Nucleotídeo Único , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/líquido cefalorraquidiano , Peptídeos beta-Amiloides/genética , Estudos de Casos e Controles , Feminino , Redes Reguladoras de Genes , Humanos , Masculino , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial , Fragmentos de Peptídeos/genéticaRESUMO
Primary familial brain calcifications (PFBC) compose a rare neurologic condition characterized by a bilateral pattern of hydroxyapatite deposits in basal ganglia, dentate nuclei, and thalamus. PFBC is identified through neuroimaging screenings such as computerized tomography. Patients with PFBC might present a wide variety of neurological symptoms such as mental and motor impairments, often misdiagnosed as Parkinson's disease, schizophrenia, Alzheimer's disease, and migraine. Four genes were confirmed as causative of PFBC: SLC20A2, PDGFB, PDGFRB, and XPR1. Curiously, other studies made occasional links between XPR1 variations or expression changes, in a few neuropsychiatric models. This letter is an assembly on XPR1 variants and expression change pattern data that were published in recent scientific reports, even before the current connection between that gene and brain calcification.
Assuntos
Encéfalo/patologia , Calcinose/genética , Transtornos Mentais/genética , Doenças Neurodegenerativas/genética , Receptores Acoplados a Proteínas G/genética , Receptores Virais/genética , Humanos , Transtornos Mentais/patologia , Doenças Neurodegenerativas/patologia , Receptor do Retrovírus Politrópico e XenotrópicoRESUMO
Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. The p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.
Assuntos
Encéfalo/patologia , Calcinose/genética , Mutação , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Adulto , Calcinose/diagnóstico , Códon de Terminação , Feminino , Humanos , MasculinoRESUMO
Familial idiopathic basal ganglia calcification (FIBGC), also known as "Fahr's disease," is a neuropsychiatric disorder with motor and cognitive symptoms. It is characterized pathologically by bilateral calcification most commonly in the basal ganglia and also in other brain regions such as the thalamus and cerebellum. A recent report by Wang et al. (2012) discovered multiple families with FIBGC carrying mutations in the SLC20A2 gene, encoding the inorganic phosphate transporter PiT-2, which segregated in an autosomal dominant pattern. To understand further the role of SLC20A2 in FIBGC brain pathology, here we described the gene expression pattern across the whole brain for SLC20A2, using the Allen Institute Human Brain Atlas database. Microarray analysis provided evidence that the neuroanatomical pattern of expression for SLC20A2 is highest in the regions most commonly affected in FIBGC. Neuroanatomical regions that demonstrated high correlation or anti-correlation with SLC20A2 expression also showed a molecular network with potential to explain the limited neuroanatomical distribution of calcifications in IBGC. Lastly, these co-expression networks suggest additional further candidate genes for FIBGC.
Assuntos
Doenças dos Gânglios da Base/genética , Calcinose/genética , Redes Reguladoras de Genes , Doenças Neurodegenerativas/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Transcrição Gênica , Adulto , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/patologia , Encéfalo/metabolismo , Calcinose/metabolismo , Calcinose/patologia , Humanos , Masculino , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/patologia , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/metabolismoRESUMO
Exaggerated blood pressure response (EBPR) during the exercise treadmill test (ETT) has been considered to be a risk factor for hypertension. The relationship of polymorphisms of the renin-angiotensin system gene with hypertension has not been established. Our objective was to evaluate whether EBPR during exercise is a clinical marker for hypertension. The study concerned a historical cohort of normotensive individuals. The exposed individuals were those who presented EBPR. At the end of the observation period (41.7 months = 3.5 years), the development of hypertension was analyzed within the two groups. Genetic polymorphisms and blood pressure behavior were assessed as independent variables, together with the classical risk factors for hypertension. The I/D gene polymorphism of the angiotensin-converting enzyme and M235T of angiotensinogen were ruled out as risk factors for hypertension. EBPR during ETT is not an independent influence on the chances of developing hypertension. No differences were observed between the hypertensive and normotensive individuals regarding gender (P = 0.655), skin color (P = 0.636), family history of hypertension (P = 0.225), diabetes mellitus (P = 0.285), or hypertriglyceridemia (P = 0.734). The risk of developing hypertension increased with increasing body mass index (BMI) and advancing age. The risk factors, which independently influenced the development of hypertension, were age and BMI. EBPR did not constitute an independent risk factor for hypertension and is probably a preclinical phase in the spectrum of normotension and hypertension.