Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, peripheral neuropathy, myopathy, and lactic acidosis associated with deficiencies of multiple mitochondrial respiratory-chain enzymes and defective mitochondrial translation. In this work, we have characterized four additional affected family members, performed homozygosity mapping, and identified a homozygous splicing mutation in the splice donor site of exon 2 (c.504+1G>A) of RMND1 (required for meiotic nuclear division-1) in the affected individuals. Fibroblasts from affected individuals expressed two aberrant transcripts and had decreased wild-type mRNA and deficiencies of mitochondrial respiratory-chain enzymes. The RMND1 mutation caused haploinsufficiency that was rescued by overexpression of the wild-type transcript in mutant fibroblasts; this overexpression increased the levels and activities of mitochondrial respiratory-chain proteins. Knockdown of RMND1 via shRNA recapitulated the biochemical defect of the mutant fibroblasts, further supporting a loss-of-function pathomechanism in this disease. RMND1 belongs to the sif2 family, an evolutionary conserved group of proteins that share the DUF155 domain, have unknown function, and have never been associated with human disease. We documented that the protein localizes to mitochondria in mammalian and yeast cells. Further studies are necessary for understanding the function of this protein in mitochondrial protein translation.

Do patients with osteogenesis imperfecta need individualized nutritional support?

Objective: Information regarding nutrition and body composition in patients diagnosed with osteogenesis imperfecta (OI) is scarce. In the present study, nutritional status, bone mineral density, and biochemical parameters of subjects with Of were evaluated. Methods: Patients with type I OI (n = 13) and type III OI (n = 13) and healthy controls (n = 8) were selected. Nutritional status and bone mineral density were assessed by a 3-d food diary and dual-energy X-ray absorptiometry at the lumbar spine, respectively. Body mass index, serum albumin, calcium, creatinine, cross-linked C-telopeptide, parathyroid hormone, and 25-hydroxivitamin D-3 were also evaluated. Results: Patients with OI had lower bone mineral density (P < 0.05 versus controls). Patients with type III OI had the highest body mass index (P < 0.05 versus patients with type I OI and controls) and the lowest lean body mass (P < 0.05 versus patients with type I OI and controls). In patients with OI, the number of fractures was positively correlated with body mass index (r = 0.581, P = 0.002) and the percentage of body fat (r = 0.451, P = 0.027) and negatively correlated to lean body mass (r = -0.523, P = 0.009). Even when taking dietary supplements, 58% and 12% of subjects with OI did not achieve the calcium and vitamin D recommendations, respectively. Conclusions: Body composition is a risk factor for bone fractures in subjects with OI. Individualized nutritional support is recommended not only to improve body composition but also to potentiate pharmacologic and physical therapies. (C) 2012 Elsevier Inc. All rights reserved.

Effects of Diets Supplemented with Branched-Chain Amino Acids on the Performance and Fatigue Mechanisms of Rats Submitted to Prolonged Physical Exercise

This study aimed to determine the effects of diets chronically supplemented with branched-chain amino acids (BCAA) on the fatigue mechanisms of trained rats. Thirty-six adult Wistar rats were trained for six weeks. The training protocol consisted of bouts of swimming exercise (one hour a day, five times a week, for six weeks). The animals received a control diet (C) (n = 12), a diet supplemented with 3.57% BCAA (S1) (n = 12), or a diet supplemented with 4.76% BCAA (S2) (n = 12). On the last day of the training protocol, half the animals in each group were sacrificed after one hour of swimming (1H), and the other half after a swimming exhaustion test (EX). Swimming time until exhaustion was increased by 37% in group S1 and reduced by 43% in group S2 compared to group C. Results indicate that the S1 diet had a beneficial effect on performance by sparing glycogen in the soleus muscle (p < 0.05) and by inducing a lower concentration of plasma ammonia, whereas the S2 diet had a negative effect on performance due to hyperammonemia (p < 0.05). The hypothalamic concentration of serotonin was not significantly different between the 1H and EX conditions. In conclusion, chronic BCAA supplementation led to increased performance in rats subjected to a swimming test to exhaustion. However, this is a dose-dependent effect, since chronic ingestion of elevated quantities of BCAA led to a reduction in performance.

Análise da suplementação de carboidratos e solução isotônica sobre parâmetros hematológicos e bioquímicos de jogadores profissionais de futebol em condições reais de treinamento

Avaliou-se o efeito de uma suplementação com carboidratos e bebidas esportivas sobre parâmetros laboratoriais em atletas de futebol de campo, em uma situação real de treinamento. Foram coletados 10 ml de sangue venoso e 50 ml de urina em repouso e 15 minutos após treinamento. Os resultados mostram que o exercício intenso causou um variável grau de estase urinária, bem como provocou alterações hidroeletrolíticas caracterizadas por uma diminuição na concentração sérica de sódio, potássio, magnésio, fósforo e glicose (p<0,05), que não foi modificada por nenhum tipo de protocolo de suplementação nas condições propostas no presente estudo. A suplementação eletrolítica proposta mostrou-se limitada para evitar variações eletrolíticas e que a reposição deve ser avaliada à luz de um contexto ambiental e de treinamento.

Relationship between body mass index with dietary fiber intake and skinfolds-differences among bodybuilders who train during morning and nocturne period

Background: The prevalence of overweight individuals has increased in recent years. Moreover, the importance of a healthy diet is associated with the practice of physical activity and attempt to verify the achievement of physical exercise influences on food choice. However, it relationship between food intake and physical activity have not been studied. Aim: To evaluate if the period in which the trainings are conducted, morning and nocturne, interfere qualitatively and quantitatively in food consumption as well as verify possible associations between anthropometric profiles and dietary habits. Methods: We collected data from 33 adult volunteers, between men and women, practitioners of bodybuilding. Results: A total of 33 volunteers were interviewed (18 (54.5%) were men and 15 (45.5%) were women). Regarding anthropometric data, it turns out that that the volunteers of the two periods had similar characteristics, differentiating only weight. The consumption of nutritional supplements was observed in 30.77% of the practitioners in the morning period vs. 35% for the nocturne. Considering macronutrient intake, there was a significant difference in the consumption of protein between the periods. The consumption during nocturne period was greater (126 +/- 5% of the daily requirement) than the morning period (115.7 +/- 2%). As for micro-nutrients, calcium intake was greater among men when compared to women. There was a positive correlation between the BMI, and arm circumference for practitioners of the morning period. Conclusion: This study show that the practitioners who train in the morning have quietly better eating habits than those in the nocturne period, however both are inappropriate.