Mitochondria are subcellular organelles involved in essential cellular functions, including cytosolic calcium regulation, cell apoptosis, and reactive oxygen species production. They are the site of important biochemical pathways, including the tricarboxylic acid cycle, parts of the ureagenesis cycle, or haem synthesis. Mitochondria are responsible for the majority of cellular ATP production through OXPHOS. Mitochondrial dysfunction has been associated with metabolic pathologies such as diabetes, obesity, hypertension, neurodegenerative diseases, cellular aging, and cancer. In this article, we describe the pathophysiological changes in, and mitochondrial role of, metabolic disorders (diabetes, obesity, and cardiovascular disease) and their correlation with oxidative stress. We highlight the genetic changes identified at the mtDNA level. Additionally, we selected several representative biomarkers involved in oxidative stress and summarize the progress of therapeutic strategies.
Objective: Ammonia is extremely unstable in blood specimens and has special requirements during transport, processing and storage. The aim of our study was to determine the stability of ammonia in EDTA K3 blood samples and to establish a protocol for sample handling. Methods: In this study, 36 healthy subjects and 47 inpatients diagnosed with type 2 diabetes mellitus were enrolled. Two peripheral blood samples were collected from healthy volunteers (Sample A1 and A2) and one peripheral blood sample was collected from the inpatients diagnosed with type 2 diabetes mellitus (Sample B). Sample A1 and B were transported in ice bath within 15 minutes of blood collection, centrifuged immediately and processed. The sample was re-centrifuged after 15 minutes and a second ammonia result was obtained. Sample A2 was transported at room temperature and stored between 2 and 4 hours, centrifuged and plasma ammonia measurement was performed. The sample was re-spun after 15 minutes and a fourth ammonia result was obtained. Results: In our study, in healthy group the difference between sample A2 and set point value (on ice, 15 minutes) is 25.08 µg/dl, showing an increase of 55.29%. After another 15 minutes, an increase of 82.02% was observed compared with the standard value. In diabetes mellitus group, after 30 minutes of blood collection, an increase of 11% over the set point value was observed. Conclusions: The blood specimen should be transported on ice to the laboratory and analyzed within 15 minutes of blood collection due to plasma ammonia spontaneously increase.
The diagnosis and management of fragile X syndrome (FXS) have significantly improved in the last three decades, although the current diagnostic techniques are not yet able to precisely identify the number of repeats, methylation status, level of mosaicism, and/or the presence of AGG interruptions. A high number of repeats (>200) in the fragile X messenger ribonucleoprotein 1 gene (FMR1) results in hypermethylation of promoter and gene silencing. The actual molecular diagnosis is performed using a Southern blot, TP-PCR (Triplet-Repeat PCR), MS-PCR (Methylation-Specific PCR), and MS-MLPA (Methylation-Specific MLPA) with some limitations, with multiple assays being necessary to completely characterise a patient with FXS. The actual gold standard diagnosis uses Southern blot; however, it cannot accurately characterise all cases. Optical genome mapping is a new technology that has also been developed to approach the diagnosis of fragile X syndrome. Long-range sequencing represented by PacBio and Oxford Nanopore has the potential to replace the actual diagnosis and offers a complete characterization of molecular profiles in a single test. The new technologies have improved the diagnosis of fragile X syndrome and revealed unknown aberrations, but they are a long way from being used routinely in clinical practice.
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