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Brain-derived Neurotrophic Factor (BDNF) is a neurotrophin that plays a pivotal role in memory, learning, and neural plasticity. Its levels can be significantly influenced by various external factors, including physical exercise 1. Many studies have investigated the impact of exercise on BDNF production, in both healthy individuals and various medical conditions 2–5. This study sought to shed light on the temporal dynamics of BDNF production in response to incremental exercise, in particular exploring whether age can influence its release. We enrolled 20 young adults (YA: 24.7 ± 3.6 yrs.; percentage of fat mass (%FM): 11.1 ± 5.4 %; peak oxygen uptake (V̇O2peak): 49.7 ± 9.9 ml/kg/min) and 12 middle-aged adults (MA: 54.6 ± 5.7 yrs.; %FM: 16.7 ± 6.5 %; V̇O2peak: 44.8 ± 5.1 ml/kg/min). Participants underwent a cycling ramp V̇O2max test until volitional exhaustion. Throughout the exercise regimen, gas exchange was continuously recorded using a metabolic cart. Venous blood samples were collected at three-time points: baseline (T0), 15 minutes after exercise (T1), and 24 hours post-exercise (T2). Serum BDNF (sBDNF) levels were quantified using an ELISA kit. Statistical analyses were performed with SPSS (ver. 27). Wilcoxon signed-rank test was employed to analyse the differences in sBDNF concentration throughout time points. Mann-Whitney U test was used to analyse differences in sBDNF concentration between groups. Results were considered significant when p<0.05. Surprisingly, we did not observe significant changes in sBDNF levels from T0 to T1 for both the YA and MA groups. However, a remarkable increase in sBDNF was detected from T0 (YA: 13.3 ± 1.69 ng/ml and MA: 12.7 ± 0.9 ng/ml) to T2 for both groups (YA: 15.5 ± 3.5 ng/ml, p<0.001; MA: 14.4 ± 3 ng/ml; p<0.05). Importantly, there were no statistical differences in sBDNF levels between age groups at any of the time points. This study provides new insights into the age-related effects on sBDNF release following acu

Neutral lipid storage disease type M (NLSD-M) is an ultra-rare, autosomal recessive disorder that causes severe skeletal and cardiac muscle damage and lipid accumulation in all body tissues. In this hereditary pathology, the defective action of the adipose triglyceride lipase (ATGL) enzyme induces the enlargement of cytoplasmic lipid droplets and reduction in the detachment of mono- (MG) and diglycerides (DG). Although the pathogenesis of muscle fiber necrosis is unknown, some studies have shown alterations in cellular energy production, probably because MG and DG, the substrates of Krebs cycle, are less available. No tests have been tried with medium-chain fatty acid molecules to evaluate the anaplerotic effect in NLSD cells. In this study, we evaluated the in vitro effect of triheptanoin (Dojolvi®), a highly purified chemical triglyceride with seven carbon atoms, in fibroblasts obtained from five NLSD-M patients. Glycolytic and mitochondrial functions were determined by Seahorse XF Agylent Technology, and cellular viability and triglyceride content were measured through colorimetric assays. After the addition of triheptanoin, we observed an increase in glycolysis and mitochondrial respiration in all patients compared with healthy controls. These preliminary results show that triheptanoin is able to induce an anaplerotic effect in NLSD-M fibroblasts, paving the way towards new therapeutic strategies.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and evaluation of expression profile of circulating muscle-specific miRNAs (myomiRs) in two MADD patients carrying different ETFDH gene mutations. Patient 1 was a compound heterozygote for two missense mutations. She showed a late onset MADD clinical phenotype and a significant increase of serum myomiRs. Patient 2, carrying a missense and a frameshift mutation, displayed early onset symptoms and a slight increase of some serum myomiRs.

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. CONCLUSIONS: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.