Background Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond mitochondrial gene mutation. Methods The clinical, histopathological, biochemical analysis for OXPHOS enzyme activity, and electron microscopic, and neuroimaging analysis was performed to diagnose 11 patients with MELAS syndrome with a multisystem presentation. In addition, whole exome sequencing (WES) and whole mitochondrial genome sequencing were performed to identify nuclear and mitochondrial mutations. Results Analysis of whole mtDNA sequence identified classical pathogenic mutation m.3243A > G in seven out of 11 patients. Exome sequencing identified pathogenic mutation in several nuclear genes associated with mitochondrial encephalopathy, sensorineural hearing loss, diabetes, epilepsy, seizure and cardiomyopathy (POLG, DGUOK, SUCLG2, TRNT1, LOXHD1, KCNQ1, KCNQ2, NEUROD1, MYH7) that may contribute to classical mitochondrial disease phenotype alone or in combination with m.3243A > G mutation. Conclusion Individuals with MELAS exhibit clinical phenotypes with varying degree of severity affecting multiple systems including auditory, visual, cardiovascular, endocrine, and nervous system. This is the first report to show that nuclear genetic factors influence the clinical outcomes/manifestations of MELAS subjects alone or in combination with m.3243A > G mutation.

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision. Three primary variants (m.3460G>A, m.11778G>A, and m.14484T>C) and about 16 secondary variants are responsible for LHON in the majority of the cases. We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked pathogenic variants. The primary variants m.11778G>A and m.14484T>C were accountable for only 14.81% and 2.64% cases, respectively. Patients with these two variants also possessed additional disease-associated variants. Among 156 patients who lacked the three primary variants, 16.02% harboured other LHON-associated variants either alone or in combination with other disease-associated variants. Furthermore, we observed that none of the haplogroups were explicitly associated with LHON. We performed a meta-analysis of m.4216T>C and m.13708G>A and found a significant association of these two variants with the LHON phenotype. Based on this study, we recommend the use of complete mtDNA sequencing to diagnose LHON, as we found disease-associated variants throughout the mitochondrial genome.

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A highly potent glycolipid was isolated from a crude oil‐contaminated soil bacterium Bacillus licheniformis SV1 (NCBI GenBank Acc. No. KX130852) when grown on a modified mineral salt medium supplemented with 2% oleic acid. The maximum reduction in surface tension of cell‐free broth from 71 ± 0.812 to 25.919 ± 0.984 mN/m with 89 ± 0.346% emulsification activity was recorded after 120 h of growth. Glycolipid was purified using chromatographic techniques and the presence of aliphatic chain (C–H stretch) and OH‐band was revealed by NMR, GC–MS and FTIR analysis. Stability of glycolipid up to 250 °C and its complete decomposition at 507 °C was recorded by thermogravimetric analysis (TGA). MTT assay (IC50 = 0.473 ± 0.048 mg/ml) along with 4′,6‐diamidino‐2‐phenylindole (DAPI) and acridine orange and ethidium bromide (AO/EtBr) staining validated that glycolipid induces cell apoptosis in human prostate cancer cell line (PC‐3). Furthermore, potent anti‐cancerous compounds such as 9‐octadecanoic acid (22.55%), linoleic acid methyl ester (2.2%) and palmitic acid (1.18%) were also detected in the GC–MS spectra of the purified glycolipid.

The recent epidemiological studies suggest that nearly one out of every 7 reproductive age couples face problem to conceive a child after trying for at least one year. Impaired fertility of the male partner is causative in approximately 50% of the infertile couples. However, the etiologies of large proportion of male infertility are still unclear. Our unpublished exome sequencing data identified several novel genes including TEX13B, which motivated us to further explore the role of TEX13B in male infertility in large infertile case control cohort. Hence in this study, we have examined the role of TEX13B in male infertility by whole gene sequencing 628 infertile and 427 control men and have demonstrated the functional role of Tex13b in spermatogonia GC1spg (GC1) cells. We identified 2 variants on TEX13B which are tightly associated with male infertility. TEX13B gene exclusively expressed in germ cells, but its molecular functions in germ cells are still unknown. Hence, we demonstrated the functional importance of Tex13b in GC1 cell line by genomic manipulation via CRISPR-Cas9 and mass spectrometry-based whole cell proteomics. The gene knock out in GC1 cell line clearly shows that Tex13b play an important role in germ cell growth and morphology. We demonstrate that Tex13b knockout or conditional overexpression in GC1 cells reprograms the metabolic status from an oxidative phosphorylation to glycolysis state and vice versa. In conclusion, our study clearly showed the importance of Tex13b in germ cells development and Its association with male infertility.

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Voting is the fundamental right for every nation. An Electronic Voting (E-Voting) system is a voting system in which the election process is notated, saved, stored, and processed digitally, which makes the voting management task better than the traditional paper-based method. Blockchain is offering new opportunities to develop new types of digital services. While research on the topic is still emerging, it has mostly focused on the technical and legal issues instead of taking advantage of this novel concept and creating advanced digital services. Blockchain-enabled e voting (BEV) could reduce voter fraud and increase voter access. Eligible voters cast a ballot anonymously using a computer or smartphone. BEV uses an encrypted key and tamper-proof personal IDs. Electronic credibility services have become an integral part of the information space. With the reliable implementation of basic services as an electronic signature and electronic authentication, it is possible to build more complex systems that rely on them, particularly the electronic voting system. In this project, the concept of developing an electronic voting system using blockchain technology is implemented.