Author: Remus Nica

Assessment of Low-Doses Doxorubicin Effects in Mice Using Chromosomal Aberration Assay

The cytogenetic aberrations induced by doxorubicin (DOX) may be influenced by diet. Investigation regarding effects of low doses of DOX on chromosomal aberrations frequency in mice bone marrow. The study explored a possible relationship between diet, follow-up period, and cytostatic doses. Four mice groups received normal or high-fat (pork) diet. At the beginning of the 8th day mice from each group received a single intraperitoneal injection with DOX (dose range: 1.7-7.7 mg/kg b.w.) or isotonic saline solution (0.02 mL/g control mice). In the 10th (groups I, II) and 14th (groups III, IV) days from the beginning of the experiment, the mice were euthanized and chromosome aberrations were tested in bone marrow cells. The body weight of all mice who received DOX decreases, especially at higher doses. In the first three days post-injection, weight loss percentage was significantly influenced by DOX doses and/or type of diet (p0.05). DOX doses were able to increase the frequency of chromosomal aberrations. DOX acts as a potent inductor of cytogenetic aberrations in bone marrow cells, regardless of the type of diet.

A Family-based Association Test of the VDR Gene in Proximal Spinal Muscular Atrophy

Different factors may be involved in the clinical heterogeneity of spinal muscular atrophy disease. The vitamin D receptor (VDR) might be a candidate gene for this disease. Our study aimed to assess the preferential transmission of VDR polymorphisms from parents to SMA children. We genotyped 261 subjects (87 SMA nuclear families) for VDR FokI, BsmI, ApaI, and TaqI polymorphisms. The transmission of the genetic marker was estimated with Plink and FBAT software. It detected a preferential transmission of the rs731236 and rs7975232 variants to SMA1 patients and of rs1544410 variants to SMA2 patients. The variants of rs2228570 were preferentially transmitted to parents of all SMA patients. Haplotype analysis identified that haplotypes C-C-G-A and T-A-A-G seem to be involved in the booth type of SMA whereas the impact of T-A-A-A seems to be limited only to SMA2. Strong linkage disequilibrium (LD) between rs7975232 and rs1544410 was detected in samples from parents. Even though we investigated a small number of nuclear families the results suggest a potential link between VDR polymorphisms and SMA disease.

The Impact of miRNAs in Diabetes Mellitus

Diabetes mellitus refers to metabolic disorders whose main characteristic is chronic hyperglycaemia. The cause is either disturbed insulin secretion, insulin resistance, or usually both. MicroRNAs represent a subclass of non-coding RNA molecules that are short in length, about 17-26 nucleotides. Since they are circulant and can be tissue-specific, their use as diagnostic biomarkers or screening for different diseases is currently undergoing deeper studies. It was found that 22 miRNAs were associated with the pathophysiology of T1DM, 34 with T2DM, and 16 miRNAs were identified to be common amongst T1DM and T2DM. All of them were reconfirmed in at least two separate studies.