Depth drive shifts in the fish and benthic assemblages of the South American Reef System.

The low-latitude habitats of the South American reef system have a high endemism and represent important stepping-stones due to the connectivity with Amazon and Caribbean reefs. We provide the first seabed mapping, and analyze the benthic cover and fish assemblages of these extreme reefs. Fleshy macroalgae (2-66% of cover), algal turfs (0-47%), and sponges (3-25%) are the dominant benthic groups.

Microplastics in marine sponges (Porifera) along a highly urbanized estuarine gradient in Santos, Brazil.

Microplastics (MPs) are ubiquitously found in environmental matrices, particularly affecting aquatic systems. While several marine species have been widely used to assess MP contamination, sponges (Porifera) are less used. The MPs contamination was assessed in the sun sponge (Hymeniacidon heliophila) along a gradient at the Santos Estuarine System (Brazil).

Prominent muscle involvement in a familial form of mitochondrial disease due to a variant.

Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved in the maturation and assembly of the COX holocomplex. We describe an Italian familial case of mitochondrial myopathy due to a variant in the COX assembly factor 8 gene ().

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.

Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy that impacts the entire nervous system. Here, we propose a novel therapeutic strategy tailored to correcting the root genetic defect of CMT2A.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

Pathogenic variants impacting upon assembly of mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) predominantly result in early onset mitochondrial disorders often leading to CNS, skeletal and cardiac muscle manifestations. The aim of this study is to describe a molecular defect in the COX assembly factor gene COX18 as the likely cause of a neonatal form of mitochondrial encephalo-cardio-myopathy and axonal sensory neuropathy. The proband is a 19-months old female displaying hypertrophic cardiomyopathy at birth and myopathy with axonal sensory neuropathy and failure to thrive developing in the first months of life.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The heterotrimer consists of three chains encoded by , and genes.

Interconnected marine habitats form a single continental-scale reef system in South America.

Large gaps in reef distribution may hinder the dispersal of marine organisms, interrupting processes vital to the maintenance of biodiversity. Here we show the presence and location of extensive reef habitats on the continental shelf between the Amazon Reef System (ARS) and the Eastern Brazilian Reef System (ERS), two reef complexes off eastern South America. Formations located 20-50 m deep include both biogenic and geogenic structures.

Three new Hymedesmia Bowerbank, 1864 (Demospongiae, Poecilosclerida, Hymedesmiidae) from the Southeast Pacific (Peru and Chile).

Despite its 2000 km long shoreline, to date less than 50 sponge species have been reported from the entire Peruvian coast. A large collecting effort targeting marine sponges was undertaken between 2007 and 2009, yielding a comprehensive collection of nearly 900 samples, whose taxonomic study is underway. Three new species of Hymedesmiidae are presently described from the Peruvian coast, all belonging in Hymedesmia (Hymedesmia), one of which also found in Chile.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the Gene.

Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic molecular defects in SGCB and features pediatric onset with limb-girdle involvement, often complicated by respiratory and heart dysfunction. Here we describe a patient who presented at the age of 12 years reporting high creatine kinase levels and onset of cramps after strenuous exercise.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.

Background: Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes, including GBA2. This gene codes for the non-lysososomal β-glucosylceramidase, which is involved in sphingolipid metabolism through its catalytic role in the degradation of glucosylceramide.

Alien hotspot: Benthic marine species introduced in the Brazilian semiarid coast.

In this study, we provide a baseline assessment of introduced marine species along the extensive (~600 km) Brazilian semiarid coast. We reported 27 introduced and 26 cryptogenic species. Moreover, the main vectors of introduction were ballast water, shipping lines, oil and gas activities, biofouling, and rafting on plastic debris.

Taxonomy of Petrosiidae Van Soest, 1980 (Haplosclerida, Porifera) from Brazil.

Petrosiidae (Haplosclerida, Demospongiae) is characterized by the hard and friable consistency, and an isotropic reticulated skeleton of oxeas/ strongyles. The Brazilian coast and oceanic islands harbor three out of four known genera of Petrosiidae: Neopetrosia de Laubenfels, 1949; Petrosia (Petrosia) Vosmaer, 1885 and Xestospongia de Laubenfels, 1932. A taxonomic survey of samples from several expeditions housed at the Porifera Collection of Museu Nacional, Universidade Federal do Rio de Janeiro, with additional comparative materials obtained from the Museu de Cincias Naturais, Fundao Zoobotnica do Rio Grande do Sul, and Universidade Federal de Pernambuco enabled the description of two new species: P.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

In this work, we describe the association of a novel homozygous VPS11 variant with adult-onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein.

Shipwrecks help invasive coral to expand range in the Atlantic Ocean.

The invasive coral Tubastraea tagusensis (sun coral) is a habitat-forming species currently increasing its geographical range into the Atlantic Ocean, thereby causing negative ecological and socioeconomic impacts. Scuba divers observed this coral in the western equatorial Atlantic in January 2020, growing at high densities on a shipwreck from World War II (sunk in 1943) at a depth of approximately 32 m. Available footage from the beginning of the decade (2012-2018) shows no obvious signs of sun coral on this shipwreck, suggesting recent colonization and range expansion.

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

Biallelic mutations in ECHS1, encoding the mitochondrial enoyl-CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia-ataxia syndrome with hearing loss and a peculiar torsional nystagmus observed in two adult siblings. The presence of a 0.

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Allgrove syndrome (AS) is a rare disease with broad neurological involvement. Neurodegeneration can affect spinal motor neurons, Purkinje cells, striatal neurons and the autonomic system. The mechanisms that lead to neuronal loss are still unclear.

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons.

Spinal muscular atrophy is a motor neuron disorder caused by mutations in SMN1. The reasons for the selective vulnerability of motor neurons linked to SMN (encoded by SMN1) reduction remain unclear. Therefore, we performed deep RNA sequencing on human spinal muscular atrophy motor neurons to detect specific altered gene splicing/expression and to identify the presence of a common sequence motif in these genes.

Integrative taxonomy of Hemimycale (Hymedesmiidae: Poecilosclerida: Demospongiae) from Southeastern Brazil, with the description of two new species.

Two new species of Hemimycale from Southeastern Brazil are described in this study with the use of morphological and molecular data. Hemimycale oxeata sp. nov.

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Riboflavin is essential in numerous cellular oxidation/reduction reactions but is not synthesized by mammalian cells. Riboflavin absorption occurs through the human riboflavin transporters RFVT1 and RFVT3 in the intestine and RFVT2 in the brain. Mutations in these genes are causative for the Brown-Vialetto-Van Laere (BVVL), childhood-onset syndrome characterized by a variety of cranial nerve palsies as well as by spinal cord motor neuron (MN) degeneration.