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.