Lewy body disease or diseases with Lewy bodies?

The current nosological concept of α-synucleinopathies characterized by the presence of Lewy bodies (LBs) includes Parkinson’s disease (PD), Parkinson’s disease dementia (PDD), and dementia with Lewy bodies (DLB), for which the term “Lewy body disease” (LBD) has recently been proposed due to their considerable clinical and pathological overlap. However, even this term does not seem to describe the true nature of this group of diseases. The subsequent discoveries of α-synuclein (αSyn), SNCA gene, and the introduction of new immunohistochemical methods have started intensive research into the molecular-biological aspects of these diseases. In light of today’s knowledge, the role of LBs in the pathogenesis and classification of these nosological entities remains somewhat uncertain. An increasingly more important role is attributed to other factors as the presence of various LBs precursors, post-translational αSyn modifications, various αSyn strains, the deposition of other pathological proteins (particularly β-amyloid), and the discovery of selective vulnerability of specific cells due to anatomical configuration or synaptic dysfunction. Resulting genetic inputs can undoubtedly be considered as the main essence of these factors. Molecular–genetic data indicate that not only in PD but also in DLB, a unique genetic architecture can be ascertained, predisposing to the development of specific disease phenotypes. The presence of LBs thus remains only a kind of link between these disorders, and the term “diseases with Lewy bodies” therefore results somewhat more accurate.

Mapping and monitoring genetic diversity of an alpine freshwater top predator by applying newly proposed indicators

Genetic diversity is the basis for population adaptation and long-term survival, yet rarely considered in biodiversity monitoring. One key issue is the need for useful and straightforward indicators of genetic diversity. To test newly proposed indicators, we monitored genetic diversity over 40 years (1970-2010) in metapopulations of brown trout inhabiting 27 small mountain lakes representing 10 water systems in central Sweden. Three of the indicators were previously proposed for broad, international use for the Convention on Biological Diversity (CBD) context, while three others were recently elaborated for national use by a Swedish science-management effort and applied for the first time here. The Swedish indicators use molecular genetic data to monitor genetic diversity within and between populations and assess the effective population size (Ne). We used a panel of 96 SNPs and identified 29 discrete populations retained over time. Over 40 percent of the lakes harbored more than one population indicating that brown trout biodiversity hidden as cryptic, sympatric populations are more common than recognized. The Ne indicator showed values below the threshold (Ne≤500) in 20 populations with five showing Ne<100. Although statistically significant genetic diversity reductions occurred in several populations, they were mostly within proposed threshold limits. Metapopulation structure appears to buffer against diversity loss; when applying the indicators to metapopulations most indicators suggest an acceptable genetic status in all but one system. The CBD indicators agreed with the national ones but provided less detail. We propose that all indicators applied here are appropriate for monitoring genetic diversity within species.

High diversity of small insectivorous mammals on Qinghai–Tibet Plateau and first description of karyotype for four endemics of China

Among seven species of the order Eulipotyphla (from southern Gansu and northern Sichuan Provinces, Central China) studied cytogenetically, karyotypes of one talpid species, Uropsilus aff. soricipes (2n = 36, NFa = 54), and three soricid species, Chodsigoa hypsibia (2n = 65, NFa = 66), Sorex cansulus (2n = 42, NFa = 64) and Sorex thibetanus (2n = 42, NFa = 60), are described cytogenetically for the first time. All four species are endemic to China with distribution ranges restricted to the Qinghai–Tibet Plateau and adjacent mountain ranges. The Ch. hypsibia karyotype consists of mostly acrocentric autosomes and one metacentric pair of autosomes; besides, a B chromosome was identified. No polymorphism was detected among karyotypes of other species, including shrews Sorex bedfordiae (2n = 26, NFa = 44), Anourosorex squamipes (2n = 48, NFa = 92) and Crocidura suaveolens (2n = 40, NFa = 44). The Chinese shrew mole U. aff. soricipes and three shrew species (S. bedfordiae, Ch. hypsibia and A. squamipes) represent autochthonous fauna of Central/Western China, whereas S. thibetanus, S. cansulus and C. suaveolens belong to phylogenetic groups occurring mostly to the north and west from China; therefore, they should be considered relatively recent colonisers. Thus, considering the relationships of the species within phylogenetic groups, our results on karyotypes are in good agreement with molecular genetic data.

Two species of Leymus (Poaceae) are artificial as inferred from the molecular-genetic data

The results of studying taxonomic relationships between five species of the aggregate Leymus secalinus (Georgi) Tzvel. of the genus Leymus Hochst. are presented. The research is based on the study of the ITS1-5.8S-ITS2 region obtained by sequencing the nuclear ribosomal DNA internal transcribed spacers, and on the anatomical and morphological data. A molecular-genetic study of the L. secalinus aggregate has revealed that the two species L. ovatus and L. jenisseiensis are artificial.

Comparative analysis of zooplankton diversity in freshwaters: What can we gain from metagenomic analysis?

Molecular genetic approaches applied to environmental DNA have great potential for biodiversity research and ecosystem monitoring. A metagenome contains genetic information from all organisms captured in an environmental sample. It has been primarily used to study bacteria and archaea, but promising reports focusing on metazoan diversity are emerging. However, methodological uncertainties remain, and studies are required to validate the power and the limitations of such an approach when applied to macro-eukaryotes. Here, we analyzed water sample metagenomes to estimate zooplankton diversity in 22 freshwater lakes across Eastern Canada. We tested the coherence of data based on morphologically identified zooplankton taxa and molecular genetic data derived from shotgun sequencing of environmental DNA collected at the same time. RV coefficients showed a significant correlation between the relative abundance of zooplankton families derived from small subunit rRNA genes extracted from the metagenomes and morphologically identified zooplankton. However, differences in congruence with morphological counts were detected when varied bioinformatic approaches were applied to presence-absence data. This study presents one of the first diversity assessments of a group of aquatic metazoans using metagenomes and validates the coherence of the community composition derived from genetic and classical species surveys. Overall, our results suggest that metagenomics has the potential to be further developed to describe metazoan biodiversity in aquatic ecosystems, and to advance this area we provide key recommendations for workflow improvement.

The importance of molecular characters when morphological variability hinders diagnosability: systematics of the moon jellyfish genus Aurelia (Cnidaria: Scyphozoa)

Cryptic species have been detected across Metazoa, and while no apparent morphological features distinguish them, it should not impede taxonomists from formal descriptions. We accepted this challenge for the jellyfish genus Aurelia, which has a long and confusing taxonomic history. We demonstrate that morphological variability in Aurelia medusae overlaps across very distant geographic localities. Even though some morphological features seem responsible for most of the variation, regional geographic patterns of dissimilarities are lacking. This is further emphasized by morphological differences found when comparing lab-cultured Aurelia coerulea medusae with the diagnostic features in its recent redescription. Previous studies have also highlighted the difficulties in distinguishing Aurelia polyps and ephyrae, and their morphological plasticity. Therefore, mostly based on genetic data, we recognize 28 species of Aurelia, of which seven were already described, 10 are formally described herein, four are resurrected and seven remain undescribed. We present diagnostic genetic characters for all species and designate type materials for newly described and some resurrected species. Recognizing moon jellyfish diversity with formal names is vital for conservation efforts and other studies. This work clarifies the practical implications of molecular genetic data as diagnostic characters, and sheds light on the patterns and processes that generate crypsis.

High Diversity of Small Insectivorous Mammals on Qinghai-Tibet Plateau and First Description of Karyotype for four Endemics of China

Among seven species of the order Eulipotyphla (from southern Gansu and northern Sichuan Provinces, Central China) studied cytogenetically, karyotypes of one talpid species, Uropsilus aff. soricipes (2n = 36, NFa = 54), and three soricid species, Chodsigoa hypsibia (2n = 65, NFa = 66), Sorex cansulus (2n = 42, NFa = 64) and Sorex thibetanus (2n = 42, NFa = 60), are described cytogenetically for the first time. All four species are endemic to China with distribution ranges restricted to the Qinghai-Tibet Plateau and adjacent mountain ranges. The Ch. hypsibia karyotype consists of mostly acrocentric autosomes and one metacentric pair of autosomes; besides, a B chromosome was identified. No polymorphism was detected among karyotypes of other species, including shrews Sorex bedfordiae (2n = 26, NFa = 44), Anourosorex squamipes (2n = 48, NFa = 92) and Crocidura suaveolens (2n = 40, NFa = 44). The Chinese shrew mole U. aff. soricipes and three shrew species (S. bedfordiae, Ch. hypsibia and A. squamipes) represent autochthonous fauna of Central/Western China, whereas S. thibetanus, S. cansulus and C. suaveolens belong to phylogenetic groups occurring mostly to the north and west from China; therefore, they should be considered relatively recent colonisers. Thus, considering the relationships of the species within phylogenetic groups, our results on karyotypes are in good agreement with molecular genetic data.

Mevalonate kinase deficiency syndrome: Single center experience

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestations and their severity were extremely diverse: from symptoms resembling Marshall’s syndrome to severe systemic manifestations with respiratory failure, hepatosplenomegaly and pancytopenia.Results/Conclusion. All patients had homozygous/compound-heterozygous mutations in the MVK gene, including 10 newly described variants. In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission.

Haplogroup Prediction Using Y-Chromosomal Short Tandem Repeats in the General Population of Bosnia and Herzegovina

Human Y-chromosomal haplogroups are an important tool used in population genetics and forensic genetics. A conventional method used for Y haplogroup assignment is based on a set of Y-single nucleotide polymorphism (SNP) markers deployed, which exploits the low mutation rate nature of these markers. Y chromosome haplogroups can be successfully predicted from Y-short tandem repeat (STR) markers using different software packages, and this method gained much attention recently due to its labor-, time-, and cost-effectiveness. The present study was based on the analysis of a total of 480 adult male buccal swab samples collected from different regions of Bosnia and Herzegovina. Y haplogroup prediction was performed using Whit Athey’s Haplogroup Predictor, based on haplotype data on 23 Y-STR markers contained within the PowerPlex® Y23 kit. The results revealed the existence of 14 different haplogroups, with I2a, R1a, and E1b1b being the most prevalent with frequencies of 43.13, 14.79, and 14.58%, respectively. Compared to the previously published studies on Bosnian-Herzegovinian population based on Y-SNP and Y-STR data, this study represents an upgrade of molecular genetic data with a significantly larger number of samples, thus offering more accurate results and higher probability of detecting rare haplogroups.

Trachysalambria aspera (Alcock, 1905) (Crustacea, Decapoda, Penaeidae) from the southeastern Arabian Sea, India

Trachysalambria aspera (Alcock, 1905) was first reported and described in detail by Alcock (1905) as Trachypeaneus asper Alcock, 1905, from the Ganjam coast (Odisha, India) and Andaman Sea. Chan et al. (2016) revised the species under the genus Trachysalambria based on molecular genetic data and resolved the confusion in their taxonomy in literature. However, they could not examine the types of T. aspera due to their non-availability (Chan et al. 2016). So we discuss the characters of the species based on the photograph of the type specimen from the Zoological Survey of India, Kolkata with that of Chan et al. (2016) and also with the specimens collected from southwest coast of India where the species has not been reported earlier, but only Trachysalambria curvirostris (George, 1967). Earlier, among Trachysalambria species, T. curvirostris was reported from both the east (Bay of Bengal) and west coasts (Arabian Sea) of Indian waters (Kunju, 1960; George, 1967; Muthu, 1971; Thomas, 1976). Chan et al. (2016) states that T. curvirostris may have a restricted distribution to northern Pacific Ocean.