SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contribute to the disease. These include SMN2, which is a pseudogene of SMN1, as well as NAIP and GTF2H2. Within the scope of our study, 58 SMA patients and 40 healthy controls were analyzed in 2018–2021. SMN1 and SMN2 copy numbers were retrospectively included in the study. NAIP gene analyzes were performed by multiplex PCR method and GTF2H2 analyzes were performed by RFLP method respectively. We detected a significant correlation between clinical subtypes (type 2 and type 3) and ambulation status (p = 0.003) and HFMSE scores (p = 0.0063) of 27 pediatric SMA patients compared with separately. Highly differences were determined between SMN2 copy numbers and the SMA subtypes (p = 0.00001). Also, the NAIP gene (p = 0,0095) and the GTF2H2 gene (p = 0,0049) revealed a significant difference between the healthy subjects and SMA subjects, whereas in the SMA subtypes indicated no significant difference. Our investigation is the first to examine the relationship between SMA clinical severity and SMN locus genes in the Turkish population. This small-scale study may be regarded as a pilot study, and it may pave the way for future research to better understand the molecular pathophysiology of SMA disease.

Extracellular vesicles (EVs) are produced by various cells and exist in most biological fluids. They play an important role in cell–cell signaling, immune response, and tumor metastasis, and also have theranostic potential. They deliver many functional biomolecules, including DNA, microRNAs (miRNA), messenger RNA (mRNA), long non-coding RNA (lncRNA), lipids, and proteins, thus affecting different physiological processes in target cells. Decreased immunogenicity compared to liposomes or viral vectors and the ability to cross through physiological barriers such as the blood–brain barrier make them an attractive and innovative option as diagnostic biomarkers and therapeutic carriers. Here, we highlighted two types of cells that can produce functional EVs, namely, mesenchymal stem/stromal cells (MSCs) and regulatory T cells (Tregs), discussing MSC/Treg-derived EV-based therapies for some specific diseases including acute respiratory distress syndrome (ARDS), autoimmune diseases, and cancer.

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Background: In this study, expression level analysis of genes associated with Attention Deficit Hyperactivity Disorder (ADHD) (SLC6A3, SLC6A4, SLC1A2, VMAT2, MAOA, COMT, GLYAT, GRM5, DRD4, TPH1, and ADRA2C) by pre-treatment and post-treatment with Atomoxetine and Methylphenidate was investigated. Methods: Forty-three ADHD diagnosed children and 38 healthy children were included to study. Forty-three patients with ADHD were divided into two groups, of which 35 patients used methylphenidate and 8 patients use atomoxetine. Five main study groups were generated: A control group, a group that includes methylphenidate pre-treatment samples, a group includes methylphenidate post-treatment samples, a group that includes atomoxetine pre-treatment samples and a group that includes atomoxetine post-treatment samples. Blood samples (10 ml each) were taken from everyone in study groups into EDTA tubes and RNA isolation was performed. mRNA expression levels of 11 determined candidate genes were showed via reverse transcription quantitative PCR method. Results: The expression levels of SLC6A3 (DAT) of ADHD diagnosed children were significantly higher than the control group, while the mRNA expression levels of SLC6A4, SLC1A2, VMAT2, MAOA, COMT, GLYAT, and TPH1 genes were significantly lower (t- test, p≤0.01).Conclusion: The expression level differences of these genes were determined to be useful as biomarkers in the diagnosis of ADHD. More patient numbers and studies with different groups are needed to fully reveal the relationship between these genes and the disease and its treatment.