Nuove specie vegetali per la pianura veneta

Vengono presentate quattro segnalazioni floristiche per la pianura veneta. Tre delle specie riportate di seguito costituiscono nuove segnalazioni per la regione e rispondono a modalit\ue0 di diffusione ben note: Rostraria litorea e Brassica tournefortii rientrano nel novero di quelle specie con distribuzione meridionale che, nel nostro emisfero, si stanno diffondendo verso nord anche a causa dei cambiamenti climatici. Campanula porscharskyana \ue8 una specie che pur essendo originaria di aree piuttosto vicine (Alpi Dinariche), \ue8 stata diffusa volontariamente dall\u2019uomo come specie ornamentale e, nell\u2019area indagata, sembra aver trovato le condizioni per potersi espandere autonomamente. La quarta specie, non \ue8 nuova per la regione ma non per questo il suo ritrovamento \ue8 meno interessante: si tratta di Rhamnus saxatilis, specie che in pianura era conosciuta soltanto per le foci del Tagliamento, area ben nota per l\u2019eccezionale ricchezza di specie di origine alpina e montana. Ulteriore elemento di interesse per questo ritrovamento \ue8 dato dal fatto che, al contrario delle tre specie precedenti, la sua presenza lungo le sponde della Brenta non pu\uf2 essere troppo recente vista la dimensione degli individui rinvenuti

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

Funding: Royal Society grant RG110387 (S.P.)Loss-of-function mutations in the SPART gene cause Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle weakness, short stature, and cognitive defects. SPART encodes for Spartin, a protein linked to endosomal trafficking and mitochondrial membrane potential maintenance. Here, we identified with whole exome sequencing (WES) a novel frameshift mutation in the SPART gene in 2 brothers presenting an uncharacterized developmental delay and short stature. Functional characterization in an SH-SY5Y cell model shows that this mutation is associated with increased neurite outgrowth. These cells also show a marked decrease in mitochondrial complex I (NADH dehydrogenase) activity, coupled to decreased ATP synthesis and defective mitochondrial membrane potential. The cells also presented an increase in reactive oxygen species, extracellular pyruvate, and NADH levels, consistent with impaired complex I activity. In concordance with a severe mitochondrial failure, Spartin loss also led to an altered intracellular Ca2+ homeostasis that was restored after transient expression of wild-type Spartin. Our data provide for the first time a thorough assessment of Spartin loss effects, including impaired complex I activity coupled to increased extracellular pyruvate. In summary, through a WES study we assign a diagnosis of Troyer syndrome to otherwise undiagnosed patients, and by functional characterization we show that the novel mutation in SPART leads to a profound bioenergetic imbalance.PreprintPeer reviewe

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

none67si: Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy. DNA from these patients was subjected to whole exome sequencing. In all patients, compound heterozygous variants in a new disease gene, LIG3, were identified. All variants were predicted to have a damaging effect on the protein. The LIG3 gene encodes the only mitochondrial DNA (mtDNA) ligase and therefore plays a pivotal role in mtDNA repair and replication. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. We demonstrated that the LIG3 gene defects affect mtDNA maintenance, leading to mtDNA depletion without the accumulation of multiple deletions as observed in other mitochondrial disorders. This mitochondrial dysfunction is likely to cause the phenotypes observed in these patients. The most prominent and consistent clinical signs were severe gut dysmotility and neurological abnormalities, including leukoencephalopathy, epilepsy, migraine, stroke-like episodes, and neurogenic bladder. A decrease in the number of myenteric neurons, and increased fibrosis and elastin levels were the most prominent changes in the gut. Cytochrome c oxidase (COX) deficient fibres in skeletal muscle were also observed. Disruption of lig3 in zebrafish reproduced the brain alterations and impaired gut transit in vivo. In conclusion, we identified variants in the LIG3 gene that result in a mitochondrial disease characterized by predominant gut dysmotility, encephalopathy, and neuromuscular abnormalities.This work was supported by Telethon Grant GGP15171 to E.B. and R.D.G. and by a donation from Kobe city to the Department of General Pediatrics, Kobe University Graduate School of Medicine (K550003302). S.C. was supported by a Dutch Cancer Foundation grant (KWF11011). V.C. and A.M. were supported by the Italian Ministry of Health (“Ricerca Corrente” funding). R.D.G. is the recipient of grants from University of Ferrara (FAR and FIR funds).openBonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C; Aronica, Eleonora M; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A M; Taniguchi-Ikeda, Mariko; De Giorgio, RobertoBonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C; Aronica, Eleonora M; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A M; Taniguchi-Ikeda, Mariko; De Giorgio, Robert

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR < 60 mL/min/1.73 m2) or eGFR reduction > 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR < 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR > 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening

GIS dei danni da fauna selvatica per pianificare la mitigazione

La proliferazione della fauna selvatica rappresenta un problema per l\u2019agricoltura sia in termini di produttivit\ue0 e perdite economiche, sia per quanto riguarda l\u2019impatto di queste specie su ambiente, biodiversit\ue0 ed ecologia. La possibilit\ue0 di effettuare mappature tematizzate dei danni tramite l\u2019impiego di Sistemi di Informazione Geografica (GIS) rappresenta il punto di partenza per una quanto pi\uf9 possibile efficace e rapida pianificazione di specifiche misure di mitigazion

A new microfluidic model to study dendritic remodeling and mitochondrial dynamics during axonal regeneration of adult zebrafish retinal neurons.

Unlike mammals, adult zebrafish are able to fully regenerate axons and functionally recover from neuronal damage in the mature central nervous system (CNS). Decades of research have tried to identify the mechanisms behind their spontaneous regenerative capacity, but the exact underlying pathways and molecular drivers remain to be fully elucidated. By studying optic nerve injury-induced axonal regrowth of adult zebrafish retinal ganglion cells (RGCs), we previously reported transient dendritic shrinkage and changes in the distribution and morphology of mitochondria in the different neuronal compartments throughout the regenerative process. These data suggest that dendrite remodeling and temporary changes in mitochondrial dynamics contribute to effective axonal and dendritic repair upon optic nerve injury. To further elucidate these interactions, we here present a novel adult zebrafish microfluidic model in which we can demonstrate compartment-specific alterations in resource allocation in real-time at single neuron level. First, we developed a pioneering method that enables to isolate and culture adult zebrafish retinal neurons in a microfluidic setup. Notably, with this protocol, we report on a long-term adult primary neuronal culture with a high number of surviving and spontaneously outgrowing mature neurons, which was thus far only very limitedly described in literature. By performing time-lapse live cell imaging and kymographic analyses in this setup, we can explore changes in dendritic remodeling and mitochondrial motility during spontaneous axonal regeneration. This innovative model system will enable to discover how redirecting intraneuronal energy resources supports successful regeneration in the adult zebrafish CNS, and might facilitate the discovery of new therapeutic targets to promote neuronal repair in humans.info:eu-repo/semantics/publishe

Morphology, geometric morphometrics, and taxonomy in relict deciduous oaks woods in northern Italy

Y The Euganean Hills are a well- known refugee site for thermophilous woody flora in northern Italy. Among the species recorded here, there is Quercus dalechampii. The Euganean Hills are the only northern Italy site where the occurrence of this oak species is considered. The aim of this paper was to verify the presence of Q. dalechampii in the study area and to select possible diagnostic morphological traits that are usable to distinguish it from Q. petraea and Q. pubescens. Forest stands dominated by Q. petraea, Q. pubescens, and the presumed Q. dalechampii were sampled using the phytosociological approach to highlight their ecological features. Leaf and fruit material from 104 oak individuals was analysed from a macro-morphological and micro-morphological point of view. Leaf shape was also analysed using the geometric morphometric approach. All multivariate analysis procedures applied on the matrices of leaf and fruit traits highlighted two main clusters of morphological diversity. One was restricted to Q. pubescens individuals, and the other one was a mix of Q. petraea and presumed Q. dalechampii individuals. According to the twig and leaf trichome traits, all presumed Q. dalechampii individuals were classified as belonging to the Q. petraea collective group. Morphological differences between Q. petraea and presumed Q. dalechampii were considered not significant. In conclusion, the occurrence of a third oak species, in addition to Q. petraea and Q. pubescens, was not confirmed for the study area by the results of this paper

Coenzyme Q10 depletion induces endogenous hypoxia in cultured cells

Coenzyme Q biosynthesis is a complex process occurring in both the cytosol and the mitochondrial matrix. The cytosolic pathway is shared with cholesterol biosynthesis through the mevalonate pathway, while the biosynthesis of the benzoquinone ring starts from p-hydroxybenzoic acid (4-HB), derived from tyrosine. A crucial step in the CoQ assembly is the insertion of the isoprenyl chain in the aromatic ring of 4-HB catalysed by 4-para-hydroxybenzoate: polyprenyl transferase (Coq2). We used 4-nitrobenzoic acid (4-NB) as a competitive inhibitor of Coq2 to induce CoQ depletion [1]. We found that CoQ depleted cells showed increased cholesterol levels, increased HIF-1α levels and a reduced intracellular oxygen tension in addition to the well-known effects associated with CoQ depletion (low respiratory capacity, low ATP content and high ROS production). The analysis of the chemical-physical state of the cellular membranes showed an increased membrane rigidity that, in our opinion, is responsible for the reduced oxygen uptake. Moreover, we found increased cytosolic NADH levels that contribute to the stabilization of the hypoxic factor HIF-1α, which is responsible for the rearrangement of cellular metabolic status that cannot be completely restored by CoQ10 supplementation. These findings could be relevant for clinical interest suggesting an explanation for the lack of effectiveness of CoQ10 supplementation therapy observed in a number of patients affected by primary CoQ10 deficiency syndrome. Moreover, our data provide new insights on the effect of CoQ10 depletion in cells and sheds light on the mechanisms that underlie CoQ10 deficiency syndrome pathogenesis

Is there a correlation between MOGAD and SARS-CoV-2 infection?

Background: MOG-Abs distinguish a group of inflammatory disorders which can be preceded by specific or non-specific infections. Few single cases have been reported in association with SARS-CoV-2 infection, but a specific study on the correlation between COVID-19 and MOG-associated disorder (MOGAD) has not been performed, yet. Aim of this study is to determine the impact of the pandemic on this condition. Methods: We analysed SARS-CoV-2 serology in newly diagnosed MOG-Abs patients (August 1st 2020-May 31st 2021). MOG-Ab seronegative age and time-matched subjects were used as controls. SARS-CoV-2 IgG were analysed using an anti-SARS-CoV-2 FDA-approved ELISA assay (Euroimmun, Luebeck, Germany) and confirmed with a trimeric anti-SARS-CoV-2 S1/S2 IgG immunochemiluminescent test (DiaSorin), concomitantly assaying anti-Receptor Binding Domain (RBD) of spike protein (Beckman) IgG and anti-RBD total Ig (Roche). We then compared the number of cases referred in the last 3 years. Results: SARS-CoV-2 IgG were more common (12/30, 40%) in MOGAD than in controls (6/30, 20%), although the difference was not significant (p=0.16; OR=2.67, 95% CI 0.85-9.17). The most common clinical presentations of MOGAD SARS-CoV-2 seropositive cases included optic neuritis (n=6) and myelitis (n=3). The number of diagnosed cases increased in the last 3 years, in particular, when including cases referred before the COVID-19 pandemic, in the initial phase of the first wave and in the late phase of the second wave (n=9, rate 10.6% in 2019; n=13, rate 12.3% in 2020; n=and 15, rate 14.7% in 2021). Conclusion: Our findings provide preliminary data on SARS-CoV-2 as a potential trigger of MOGAD