Unpredictable Chemical Diversity of Essential Oils in Cinnamomum burmanni (Lauraceae) Living Collections: Beyond Maternally Inherited Phylogenetic Relationships.

The genus Cinnamomum encompasses diverse species with various applications, particularly in traditional medicine and spice production. This study focuses on Cinnamomum burmanni, specifically on a high-D-borneol-content chemotype, known as the Meipian Tree, in Guangdong Province, South China. This research explores essential oil diversity, chemotypes, and chloroplast genomic diversity among 28 C. burmanni samples collected from botanical gardens. Essential oils were analyzed, and chemotypes classified using GC-MS and statistical methods. Plastome assembly and phylogenetic analysis were conducted to reveal genetic relationships. Results showed distinct chemotypes, including eucalyptol and borneol types, with notable variations in essential oil composition. The chloroplast genome exhibited conserved features, with phylogenetic analysis revealing three major clades. Borneol-rich individuals in clade II suggested a potential maternal inheritance pattern. However, phylogenetic signals revealed that the composition of essential oils is weakly correlated with plastome phylogeny. The study underscores the importance of botanical gardens in preserving genetic and chemical diversity, offering insights for sustainable resource utilization and selective breeding of high-yield mother plants of C. burmanni.

Genetic Counseling and Prenatal Diagnosis of a Maternally Inherited 15q11.2 Microduplication.

Unbalanced chromosome abnormalities (UBCA) are large genomic region variations that often result in minimal clinical effects. Copy number variants (CNVs), such as microdeletions and microduplications in 15q11.2, have been linked to various health issues, making prenatal diagnosis and genetic counselling challenging. Microdeletions and microduplications in the genomic region 15q11.2 are associated with congenital heart defects, autism, schizophrenia, epilepsy, mental retardation and developmental delay. The literature on this microduplication is confusing and extensive, which is a great difficulty for prenatal diagnosis and genetic counselling. A 35-year-old female undergoing amniocentesis at Week 19 due to advanced maternal age revealed a normal 46,XX karyotype through G-banding analysis. However, Chromosomal microarray analysis (CMA) on the same amniocytes detected a 550-Kb maternally inherited chromosomal microduplication in 15q11.2. An integrated approach combining karyotype analysis, CMA, genetic counseling, and prenatal ultrasound is crucial for the accurate prenatal diagnosis of UBCAs and CNVs.

Prenatal Diagnosis and Genetic Counseling of a Maternally Inherited Chromosome 15q11.2q13.1 Duplication in a Chinese Family.

Background: Maternally inherited chromosomal duplications in the region of 15q11.2q13.1 have been associated with neurodevelopmental disorders and other clinical manifestations. Prenatal diagnosis of such duplications is crucial for providing accurate genetic counseling and guiding clinical management decisions. Objective: This study aims to present the prenatal diagnosis and genetic counseling of a maternally inherited 15q11.2q13.1 duplication. Case Presentation: A 38-year-old gravida 1, para 0 woman underwent amniocentesis at 16 weeks of gestation due to advanced maternal age. Karyotype analysis was performed on cultured amniocytes, and chromosomal microarray analysis (CMA) was conducted on uncultured amniocytes. Results: The karyotype analysis of the cultured amniocytes revealed a normal karyotype of 46, XX. CMA identified a 4.21 Mb maternally inherited chromosomal duplication in the region of 15q11.2q13.1 (arr[GRCh37]15q11.2q13.1(23,894,550_28,107,154)x3). Conclusions: Copy number variants (CNVs) and unbalanced chromosomal abnormalities (UBCA) identified in prenatal cases require careful consideration and accurate interpretation to determine their potential harm or harmlessness compared to the norm. The combination of prenatal ultrasound, karyotype analysis, CMA, and genetic counseling proves helpful in the prenatal diagnosis of CNVs and UBCA.

Herpes zóster en lactantes. Presentación de tres casos / Herpes zoster in infants. Three cases report

RESUMEN El herpes zóster es una afección infrecuente en lactantes, con una incidencia de 0,74/1 000 habitantes. Se produce por la reactivación del virus de la varicela zóster, tras una primoinfección por varicela. Puede ocurrir intraútero, por lo que resulta relevante conocer los antecedentes maternos. El diagnóstico es clínico y si se realiza de forma adecuada reduce el riesgo de complicaciones. El tratamiento en los niños es sintomático, porque su evolución es más favorable que en los adultos. Debido a la rareza de esta entidad, se presentan tres casos de herpes zóster en lactantes de 4, 6 y 11 meses de edad, que acudieron con lesiones y evolución típica de esta enfermedad al Hospital Pediátrico Provincial Docente Eliseo Noel Caamaño, de Matanzas, entre septiembre y octubre de 2017 (AU).

ABSTRACT Herpes zoster is an uncommon affection in infants, with an incidence of 0.74/1 000 inhabitants. It is produced by the reactivation of the varicella-zoster virus, after a primary infection by varicella. This can occur inside the uterus, making it relevant to know maternal antecedents. The diagnosis is clinical, and if it is made in an appropriate way, reduces complication risk. The treatment in children is symptomatic because its evolution is more favorable than in adults. Due to the rareness of this entity, we present three cases of herpes zoster in nurslings aged 4, 6 and 11 moths who assisted the Teaching Pediatric Hospital Eliseo Noel Caamaño, of Matanzas, with lesions and typical evolution of this disease in the period September-October 2017 (AU).

Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish.

BACKGROUND: In humans, vitamin B-12 (cobalamin) transport involves 3 paralogous proteins: transcobalamin, haptocorrin, and intrinsic factor. Zebrafish (Danio rerio) express 3 genes that encode proteins homologous to known B-12 carrier proteins: tcn2 (a transcobalamin ortholog) and 2 atypical ß-domain-only homologs, tcnba and tcnbb. OBJECTIVES: Given the orthologous relation between zebrafish Tcn2 and human transcobalamin, we hypothesized that zebrafish carrying null mutations of tcn2 would exhibit phenotypes consistent with vitamin B-12 deficiency. METHODS: First-generation and second-generation tcn2-/- zebrafish were characterized using phenotypic assessments, metabolic analyses, viability studies, and transcriptomics. RESULTS: Homozygous tcn2-/- fish produced from a heterozygous cross are viable and fertile but exhibit reduced growth, which persists into adulthood. When first-generation female tcn2-/- fish are bred, their offspring exhibit gross developmental and metabolic defects. These phenotypes are observed in all offspring from a tcn2-/- female regardless of the genotype of the male mating partner, suggesting a maternal effect, and can be rescued with vitamin B-12 supplementation. Transcriptome analyses indicate that offspring from a tcn2-/- female exhibit expression profiles distinct from those of offspring from a tcn2+/+ female, which demonstrate dysregulation of visual perception, fatty acid metabolism, and neurotransmitter signaling pathways. CONCLUSIONS: Our findings suggest that the deposition of vitamin B-12 in the yolk by tcn2-/- females may be insufficient to support the early development of their offspring. These data present a compelling model to study the effects of vitamin B-12 deficiency on early development, with a particular emphasis on transgenerational effects and gene-environment interactions.

Maternal Adenine-Induced Chronic Kidney Disease Programs Hypertension in Adult Male Rat Offspring: Implications of Nitric Oxide and Gut Microbiome Derived Metabolites.

Maternal chronic kidney disease (CKD) during pregnancy causes adverse fetal programming. Nitric oxide (NO) deficiency, gut microbiota dysbiosis, and dysregulated renin-angiotensin system (RAS) during pregnancy are linked to the development of hypertension in adult offspring. We examined whether maternal adenine-induced CKD can program hypertension and kidney disease in adult male offspring. We also aimed to identify potential mechanisms, including alterations of gut microbiota composition, increased trimethylamine-N-oxide (TMAO), reduced NO bioavailability, and dysregulation of the RAS. To construct a maternal CKD model, female Sprague-Dawley rats received regular chow (control group) or chow supplemented with 0.5% adenine (CKD group) for 3 weeks before pregnancy. Mother rats were sacrificed on gestational day 21 to analyze placentas and fetuses. Male offspring (n = 8/group) were sacrificed at 12 weeks of age. Adenine-fed rats developed renal dysfunction, glomerular and tubulointerstitial damage, hypertension, placental abnormalities, and reduced fetal weights. Additionally, maternal adenine-induced CKD caused hypertension and renal hypertrophy in adult male offspring. These adverse pregnancy and offspring outcomes are associated with alterations of gut microbiota composition, increased uremic toxin asymmetric and symmetric dimethylarginine (ADMA and SDMA), increased microbiota-derived uremic toxin TMAO, reduced microbiota-derived metabolite acetate and butyrate levels, and dysregulation of the intrarenal RAS. Our results indicated that adenine-induced maternal CKD could be an appropriate model for studying uremia-related adverse pregnancy and offspring outcomes. Targeting NO pathway, microbiota metabolite TMAO, and the RAS might be potential therapeutic strategies to improve maternal CKD-induced adverse pregnancy and offspring outcomes.

Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis.

Purpose: Previous studies have shown that parental abnormal physiological conditions such as inflammation, stress, and obesity can be transferred to offspring. The purpose of this study was to investigate the impact of parental uveitis on the development and susceptibility to experimental autoimmune uveitis (EAU) in offspring. Methods: Parental male and female B10RIII mice were immunized with interphotoreceptor retinoid binding protein (IRBP) 161-180 in complete Freund's adjuvant and were immediately allowed to mate. Gross examination of the offspring gestated with EAU was performed to determine the influence of parental uveitis on offspring development after birth. Gene expression profiles were analyzed in the affected eyes of offspring under EAU to identify differentially expressed genes (DEGs). Adult offspring were given 5, 25, and 50 µg IRBP161-180 to compare their susceptibility to EAU. Immunized mice were clinically and pathologically evaluated for the development of EAU. Ag-specific T-cell proliferation and IL-17 production from spleens and lymph nodes were evaluated on day 14 or 35 after immunization. Results: Hair loss, delay of eye opening, and swollen spleens in the offspring from parents with uveitis were observed from day 14 to 39 after birth. DEGs were involved in the immune system process, muscle system process, and cell development. The altered antigen processing and presentation, cell adhesion molecules, and phagosome in the eyes of the offspring from uveitis-affected parents were enriched. Offspring gestated with EAU showed a susceptibility to EAU and an earlier onset and higher severity of EAU compared to the control group mice. IRBP-specific lymphocyte proliferation and IL-17 production were observed in the EAU offspring with exposure to parental uveitis. Conclusions: The results suggest that mouse parents with uveitis can increase their offspring's susceptibility to EAU, probably through altering cell adhesion molecules and antigen processing and presentation related to the T-cell proliferation and Th17 response.

Maternal betaine supplementation decreases hepatic cholesterol deposition in chicken offspring with epigenetic modulation of SREBP2 and CYP7A1 genes.

Maternal betaine was reported to regulate offspring hepatic cholesterol metabolism in mammals. However, it is unclear whether and how feeding betaine to laying hens affects hepatic cholesterol metabolism in offspring chickens. Rugao yellow-feathered laying hens (n = 120) were fed basal or 0.5% betaine-supplemented diet for 28 D before the eggs were collected for incubation. Maternal betaine significantly decreased the hepatic cholesterol content (P < 0.05) in offspring chickens. Accordingly, the cholesterol biosynthetic enzymes, sterol regulator element-binding protein 2 (SREBP2) and 3-hydroxy-3-methylglutaryl coenzyme A reductase, were decreased, while cholesterol-7alpha-hydroxylase (CYP7A1), which converts cholesterol to bile acids, was increased at both mRNA and protein levels in betaine-treated offspring chickens. Hepatic mRNA and protein expression of low-density lipoprotein receptor was significantly (P < 0.05) increased, while the mRNA abundance of cholesterol acyltransferase 1 (ACAT1) that mediates cholesterol esterification was significantly (P < 0.05) decreased in the betaine group. Meanwhile, hepatic protein contents of DNA methyltransferases 1 and betaine homocysteine methyltransferase were increased (P < 0.05), which was associated with modifications of CpG methylation on affected cholesterol metabolic genes. Furthermore, the level of CpG methylation on gene promoters was increased (P < 0.05) for sterol regulator element-binding protein 2 and abundance of cholesterol acyltransferase 1 yet decreased (P < 0.05) for cholesterol-7alpha-hydroxylase. These results indicate that maternal betaine supplementation significantly decreases hepatic cholesterol deposition through epigenetic regulation of cholesterol metabolic genes in offspring juvenile chickens.

Maternal dietary uridine supplementation reduces diarrhea incidence in piglets by regulating the intestinal mucosal barrier and cytokine profiles.

BACKGROUND: Nucleotides play an important role in the regulation of cellular energy and protein homeostasis, which facilitate the repair, recovery and repletion of tissue function. This study tested the effects of maternal uridine (UR) supplementation during late pregnancy and lactation of sows on the immune function of the small intestine in neonatal and suckling piglets. RESULTS: Results showed that compared to the control group, maternal dietary UR supplementation significantly decreased incidence of diarrhea in suckling piglets (P < 0.01); and increased both duodenal and ileal average villus height (P < 0.01) as well as villus height/crypt depth in ileum (P = 0.017) in neonatal piglets. RT-qPCR results showed that maternal UR supplementation decreased mRNA expression of claudin-1 in jejunum and ileum of neonatal piglets (P < 0.05), while significantly increased mRNA expression of claudin-1 in duodenum and jejunum of suckling piglets. Furthermore, in suckling piglets, maternal dietary UR supplementation increased mRNA expression of IL-6, IL-8 and IL-1ß in duodenum, jejunum and ileum (P < 0.05), increased IL-10 expression in both jejunal and ileal mucosa (P < 0.05) and increased mRNA expression of IKB and TLR4 in ileal mucosa (P < 0.05). CONCLUSIONS: These results suggest that maternal dietary supplementation with UR contributed to reducing incidence of diarrhea by regulating cytokine secretion and intestinal mucosal barrier function in suckling piglets. © 2020 Society of Chemical Industry.

Transgenerational disrupting impacts of atrazine in zebrafish: Beneficial effects of dietary spirulina.

In a range of fish species, offspring sustainability is much dependent to their mother's investment into the egg yolk. A healthy environment helps broodfish to produce normal quality offspring. However, deviation from optimal conditions can disturb body functions that effect the next generation. Here, zebrafish (Danio rerio) was employed to investigate the transgenerational impacts of an immunotoxic and endocrine disruptor, atrazine (AZ). In addition, the possible ameliorated effects of a nutraceutical, Arthrospira platensis (spirulina- SP), was considered. Adult females were either exposed to 0 (Cn), 5 (AZ5), and 50 (AZ50) µg/L AZ or fed SP-supplemented diet (10 g/kg; SP). In combination treatments, fish were also exposed to AZ and fed SP (SP-AZ5 and SP-AZ50). Embryos were obtained after 28 d of exposure. Exposure to AZ50 caused females to produce eggs with significantly lower fertilization and hatching. No changes were observed in the concentrations of thyroid hormones. AZ significantly increased cortisol response and reduced levels of immunoglobulin, lysozyme and complement activities in females and their offspring. SP-AZ5 and SP-AZ50 females, however, resisted to the toxic effects of AZ, produced embryos with lower cortisol content and higher immunity competence. Bactericidal activity of the embryos also showed the transgenerational antimicrobial effects of SP along with the AZ immunotoxicity. Overall, these results indicate that AZ could have long lasting toxic effects on fish, and that dietary SP-supplementation could ameliorate AZ induced transgenerational toxic effects.

Human mitochondrial DNA lineages in Iron-Age Fennoscandia suggest incipient admixture and eastern introduction of farming-related maternal ancestry.

Human ancient DNA studies have revealed high mobility in Europe's past, and have helped to decode the human history on the Eurasian continent. Northeastern Europe, especially north of the Baltic Sea, however, remains less well understood largely due to the lack of preserved human remains. Finland, with a divergent population history from most of Europe, offers a unique perspective to hunter-gatherer way of life, but thus far genetic information on prehistoric human groups in Finland is nearly absent. Here we report 103 complete ancient mitochondrial genomes from human remains dated to AD 300-1800, and explore mtDNA diversity associated with hunter-gatherers and Neolithic farmers. The results indicate largely unadmixed mtDNA pools of differing ancestries from Iron-Age on, suggesting a rather late genetic shift from hunter-gatherers towards farmers in North-East Europe. Furthermore, the data suggest eastern introduction of farmer-related haplogroups into Finland, contradicting contemporary genetic patterns in Finns.

Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.

Wilson disease (WD) is caused by mutations in the copper transporter ATP7B, leading to copper accumulation in the liver and brain. Excess copper inhibits S-adenosyl-L-homocysteine hydrolase, leading to variable WD phenotypes from widespread alterations in DNA methylation and gene expression. Previously, we demonstrated that maternal choline supplementation in the Jackson toxic milk (tx-j) mouse model of WD corrected higher thioredoxin 1 (TNX1) transcript levels in fetal liver. Here, we investigated the effect of maternal choline supplementation on genome-wide DNA methylation patterns in tx-j fetal liver by whole-genome bisulfite sequencing (WGBS). Tx-j Atp7b genotype-dependent differences in DNA methylation were corrected by choline for genes including, but not exclusive to, oxidative stress pathways. To examine phenotypic effects of postnatal choline supplementation, tx-j mice were randomized to one of six treatment groups: with or without maternal and/or continued choline supplementation, and with or without copper chelation with penicillamine (PCA) treatment. Hepatic transcript levels of TXN1 and peroxiredoxin 1 (Prdx1) were significantly higher in mice receiving maternal and continued choline with or without PCA treatment compared to untreated mice. A WGBS comparison of human WD liver and tx-j mouse liver demonstrated a significant overlap of differentially methylated genes associated with ATP7B deficiency. Further, eight genes in the thioredoxin (TXN) pathway were differentially methylated in human WD liver samples. In summary, Atp7b deficiency and choline supplementation have a genome-wide impact, including on TXN system-related genes, in tx-j mice. These findings could explain the variability of WD phenotype and suggest new complementary treatment options for WD.

Unreduced gamete formation in wheat × Aegilops spp. hybrids is genotype specific and prevented by shared homologous subgenomes.

KEY MESSAGE: The presence of homologous subgenomes inhibited unreduced gamete formation in wheat × Aegilops interspecific hybrids. Unreduced gamete rates were under the control of the wheat nuclear genome. Production of unreduced gametes is common among interspecific hybrids, and may be affected by parental genotypes and genomic similarity. In the present study, five cultivars of Triticum aestivum and two tetraploid Aegilops species (i.e. Ae. triuncialis and Ae. cylindrica) were reciprocally crossed to produce 20 interspecific hybrid combinations. These hybrids comprised two different types: T. aestivum × Aegilops triuncialis; 2n = ABDU(t)C(t) (which lack a common subgenome) and T. aestivum × Ae. cylindrica; 2n = ABDD(c)C(c) (which share a common subgenome). The frequency of unreduced gametes in F1 hybrids was estimated in sporads from the frequency of dyads, and the frequency of viable pollen, germinated pollen and seed set were recorded. Different meiotic abnormalities recorded in the hybrids included precocious chromosome migration to the poles at metaphase I and II, laggards in anaphase I and II, micronuclei and chromosome stickiness, failure in cell wall formation, premature cytokinesis and microspore fusion. The mean frequency of restitution meiosis was 10.1 %, and the mean frequency of unreduced viable pollen was 4.84 % in T. aestivum × Ae. triuncialis hybrids. By contrast, in T. aestivum × Ae. cylindrica hybrids no meiotic restitution was observed, and a low rate of viable gametes (0.3 %) was recorded. This study present evidence that high levels of homologous pairing between the D and D(c) subgenomes may interfere with meiotic restitution and the formation of unreduced gametes. Variation in unreduced gamete production was also observed between T. aestivum × Ae. triuncialis hybrid plants, suggesting genetic control of this trait.