Cytoplasmic male sterility (CMS) arises from the incompatibility between the nucleus and cytoplasm as typical representatives of the chimeric structures in the mitochondrial genome (mitogenome), which has been extensively applied for hybrid seed production in various crops. The frequent occurrence of chimeric mitochondrial genes leading to CMS is consistent with the mitochondrial DNA (mtDNA) evolution. The sequence conservation resulting from faithfully maternal inheritance and the chimeric structure caused by frequent sequence recombination have been defined as two major features of the mitogenome. However, when and how these chimeric mitochondrial genes appear in the context of the highly conserved reproduction of mitochondria is an enigma. This review, therefore, presents the critical view of the research on CMS in plants to elucidate the mechanisms of this phenomenon. Generally, distant hybridization is the main mechanism to generate an original CMS source in natural populations and in breeding. Mitochondria and mitogenomes show pleomorphic and dynamic changes at key stages of the life cycle. The promitochondria in dry seeds develop into fully functioning mitochondria during seed imbibition, followed by massive mitochondria or mitogenome fusion and fission in the germination stage along with changes in the mtDNA structure and quantity. The mitogenome stability is controlled by nuclear loci, such as the nuclear gene Msh1. Its suppression leads to the rearrangement of mtDNA and the production of heritable CMS genes. An abundant recombination of mtDNA is also often found in distant hybrids and somatic/cybrid hybrids. Since mtDNA recombination is ubiquitous in distant hybridization, we put forward a hypothesis that the original CMS genes originated from mtDNA recombination during the germination of the hybrid seeds produced from distant hybridizations to solve the nucleo-cytoplasmic incompatibility resulting from the allogenic nuclear genome during seed germination.

Disorders of mitochondrial function are responsible for many inherited neuromuscular and metabolic diseases. Their combination of high mortality, multi-systemic involvement, and economic burden cause devastating effects on patients and their families. Molecular diagnostic tools are becoming increasingly important in providing earlier diagnoses and guiding more precise therapeutic treatments for patients suffering from mitochondrial disorders. This review addresses fundamental molecular concepts relating to the pathogenesis of mitochondrial dysfunction and disorders. A series of short cases highlights the various clinical presentations, inheritance patterns, and pathogenic mutations in nuclear and mitochondrial genes that cause mitochondrial diseases. Graphical and tabular representations of the results are presented to guide the understanding of the important concepts related to mitochondrial molecular genetics and pathology. Emerging technology is incorporating preimplantation genetic testing for mtDNA disorders, while mitochondrial replacement shows promise in significantly decreasing the transfer of diseased mitochondrial DNA (mtDNA) to embryos. Medical professionals must maintain an in-depth understanding of the gene mutations and molecular mechanisms underlying mitochondrial disorders. Continued diagnostic advances and comprehensive management of patients with mitochondrial disorders are essential to achieve robust clinical impacts from comprehensive genomic testing. This is especially true when supported by non-genetic tests such as biochemical analysis, histochemical stains, and imaging studies. Such a multi-pronged investigation should improve the management of mitochondrial disorders by providing accurate and timely diagnoses to reduce disease burden and improve the lives of patients and their families.

Mitochondrial DNA (mtDNA) is a critical genome contained within the mitochondria of eukaryotic cells, with many copies present in each mitochondrion. Mutations in mtDNA often are inherited and can lead to severe health problems, including various inherited diseases and premature aging. The lack of efficient repair mechanisms and the susceptibility of mtDNA to damage exacerbate the threat to human health. Heteroplasmy, the presence of different mtDNA genotypes within a single cell, increases the complexity of these diseases and requires an effective editing method for correction. Recently, gene-editing techniques, including programmable nucleases such as restriction endonuclease, zinc finger nuclease, transcription activator-like effector nuclease, clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated 9 and base editors, have provided new tools for editing mtDNA in mammalian cells. Base editors are particularly promising because of their high efficiency and precision in correcting mtDNA mutations. In this review, we discuss the application of these techniques in mitochondrial gene editing and their limitations. We also explore the potential of base editors for mtDNA modification and discuss the opportunities and challenges associated with their application in mitochondrial gene editing. In conclusion, this review highlights the advancements, limitations and opportunities in current mitochondrial gene-editing technologies and approaches. Our insights aim to stimulate the development of new editing strategies that can ultimately alleviate the adverse effects of mitochondrial hereditary diseases.

The larva of Agriocnemis minima Selys, 1879 is described and illustrated for the first time, based on reared specimens collected from Thailand. Selected larvae of Agrioncnemis Selys, 1877 were matched with their adults by DNA barcoding. The mitochondrial COI gene (658 bp) of three species (A. minima, A. femina femina (Brauer, 1868), and A. pygmaea (Rambur, 1842)) occurring in Thailand was analysed to confirm the species identification and to determine the association between the larva and adult stages. The larva of A. minima can be distinguished from known species by the following combination of characteristics: 1) long simple setae on the antennomeres I and II, 2) protrusion of the male cerci as long as 0.5× the S10, and 3) tufts of spiniform setae on the lateral occiput margin and on the ventral view of the compound eyes. Comparisons to known larvae of Agriocnemis and those of some other subfamily Agriocnemidinae members are also provided.

A freshwater palaemonid shrimp from the São Francisco river basin in Brazil has been found to be a new species and is herein nominated as Macrobrachium veredensis sp. nov. It is morphologically similar to M. brasiliense (Heller, 1862), which is found in many rivers of South America. However, M. veredensis sp. nov. has a smooth carapace and few spinules on the second pereopods, while M. brasiliense has the anterolateral surface of the carapace with small spinules and the palm of the second pereopods with spines, spinules and setae. Despite their similar morphology with these subtle differences, the remarkable genetic different evidenced in DNA analysis. Molecular analyses were based on 43 sequences with 528 base pairs (bp) for 16S rDNA, and 16 new sequences with 581bp, without pseudogenes, for COI mtDNA. The nucleotide divergence between M. veredensis sp. nov. and M. brasiliense (7.0-8.5% for 16S and 11.8-12.5% for COI.), the phylogenetic topology and the haplotype network configuration and it is endemism to a region of the São Francisco river basin support the recognition of a new taxon.

OBJECTIVE: Lewy body dementia (LBD) is the second most prevalent neurodegenerative dementia and it causes more morbidity and mortality than Alzheimer\'s disease. Several genetic associations of LBD have been reported and their functional implications remain uncertain. Hence, we aimed to do a systematic review of all gene expression studies that investigated people with LBD for improving our understanding of LBD molecular pathology and for facilitating discovery of novel biomarkers and therapeutic targets for LBD.
METHODS: We systematically reviewed five online databases (PROSPERO protocol: CRD42017080647) and assessed the functional implications of all reported differentially expressed genes (DEGs) using Ingenuity Pathway Analyses.
RESULTS: We screened 3,809 articles and identified 31 eligible studies. In that, 1,242 statistically significant (p < 0.05) DEGs including 70 microRNAs have been reported in people with LBD. Expression levels of alternatively spliced transcripts of SNCA, SNCB, PRKN, APP, RELA, and ATXN2 significantly differ in LBD. Several mitochondrial genes and genes involved in ubiquitin proteasome system and autophagy-lysosomal pathway were significantly downregulated in LBD. Evidence supporting chronic neuroinflammation in LBD was inconsistent. Our functional analyses highlighted the importance of ribonucleic acid (RNA)-mediated gene silencing, neuregulin signalling, and neurotrophic factors in the molecular pathology of LBD.
CONCLUSIONS: α-synuclein aggregation, mitochondrial dysfunction, defects in molecular networks clearing misfolded proteins, and RNA-mediated gene silencing contribute to neurodegeneration in LBD. Larger longitudinal transcriptomic studies investigating biological fluids of people living with LBD are needed for molecular subtyping and staging of LBD. Diagnostic biomarker potential and therapeutic promise of identified DEGs warrant further research.

The taxonomy of the three native taxa assigned to the genus Labeo (L. dussumieri, L. fisheri and L. porcellus lankae) in Sri Lanka is reviewed. The population hitherto identified as L. dussumieri in Sri Lanka is shown to be a distinct species, here named L. heladiva. Labeo heladiva, new species, has a wide distribution in the low and mid-elevations of the island and is distinguished from its Indian congeners by the combination of having two pairs of barbels; 12-13 branched dorsal-fin rays; lateral line with 44-51 scales; ½8-½9+1+6-7 scales in transverse series; and 19-22 circumpeduncular scales. It differs from its closest relative, L. dussumieri, principally by having 44-51 vs. 50-60 lateral-line scales, 19-22 vs. 22-27 circumpeduncular scales, and by uncorrected pairwise genetic distances of 1.27-2.22% and 1.88-2.91% for the two mitochondrial genes COI and cytb, respectively. Labeo fisheri, which is endemic to the upper reaches of the Mahaweli River basin in the Knuckles mountain range and the central hills in the vicinity of Kandy, is distinguished from Indian congeners by having (in combination) only a single pair of barbels; dorsal fin with 10-12 branched rays; lateral line with 37-39 scales; 7+1+4½-6 scales in transverse series; and 17-20 circumpeduncular scales. Labeo lankae is recognized as a valid species endemic to Sri Lanka. Long suspected to have become extinct, or known only from spurious records, an extant population is reported from the northern dry zone of the island. Labeo lankae is the sister species of L. porcellus of peninsular India; it can be distinguished from its congeners by having, in combination, 10-12 branched dorsal-fin rays; 36-39 lateral-line scales; ½8+1+5-6½ scales in transverse series; and 21-24 circumpeduncular scales. It differs from L. porcellus principally by having ½8 (vs. ½6-½7) scales between the origin of the dorsal fin and the lateral line, 21-24 (vs. 20-21) circumpeduncular scales and uncorrected pairwise genetic distances of 1.27% and 1.41% for the mitochondrial genes COI and cytb, respectively. The three species of Labeo in Sri Lanka do not form a monophyletic group.

CONCLUSIONS: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired.
BACKGROUND: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss. Indeed, genetic factors, the most common etiology in severe-to-profound hearing loss, might be one of the key determinants of outcomes for CI and electric acoustic stimulation (EAS). Patients with genetic causes involving an \'intra-cochlear\' etiology show good CI/EAS outcomes.
METHODS: This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.

The first records of phlebotomine sandflies from Botswana have been published only recently, comprising of four species of genus Sergentomyia. This update presents the first record of genus Phlebotomus, namely Ph. (Anaphlebotomus) rodhaini Parrot, which is also the first detection of a putative vector of leishmaniasis in Botswana. In addition, records of the Sergentomyia \"bedfordi (Newstead) group\" are reviewed, and the molecular taxonomy of all taxa known from Botswana is analysed based on three mitochondrial gene fragments (mtDNA). The presence of Se. congolensis (Bequaert and Walrveus) and Se. salisburiensis (Abonnenc) is confirmed, whereas the previously mentioned Se. caliginosa Davidson and unassigned specimens of the \"bedfordi group\" are proposed to belong to the tentatively named Se. bedfordi \"Maun\" form. The mtDNA analyses confirmed the species delimitations. For the first time, portions of the ND5 gene were used for the purpose of sandfly molecular taxonomy. This gene revealed a high inter-specific variability and may thus be applied as an alternative molecular marker for future studies.

The scincid genus Trachylepis is represented in the oceanic islands of the Gulf of Guinea by four species, Trachylepis maculilabris, T. affinis, T. adamastor and T. ozorii. Here we describe two new species, Trachylepis thomensis sp. nov., endemic to São Tomé Island and Rolas Islet, and Trachylepis principensis sp. nov., endemic to Príncipe Island. Phylogenetic analysis using the mitochondrial gene 16S shows that both new species are genetically divergent and reciprocally monophyletic, and confirms evidence for the uniqueness of these lineages presented in previous studies. Morphological data (scalation and morphometry) identify consistent phenotypic differences between these two island species. We were also able to confirm that the T. affinis population of Príncipe Island is conspecific with the African mainland population and most probably the result of recent introductions. These findings raise the number of known Trachylepis species in the Gulf of Guinea islands group to five, four of which are endemic, although the phylogenetic and phylogeographic relationships of T. adamastor and T. ozorii remain unknown and require further investigation.