The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an EGF-precursor homology domain that plays a pivotal role in lipoprotein release and receptor recycling. Mutations in this domain constitute 51.7% of the total missense variants described in LDLR. The aim of the present work was to analyse how clinically significant variants in the EGF-precursor homology domain impact LDLR. The activity of sixteen LDLR variants was functionally characterized by determining LDLR expression by Western blot and LDLR expression, LDL binding capacity and uptake, and LDLR recycling activity by flow cytometry in transfected CHO-ldlA7 cells. Of the analysed variants, we found six non-pathogenic LDLR variants and ten pathogenic variants distributed as follow: three class 3 variants; four class 2 variants; and three class 5 variants. These results can be incorporated into clinical management of patients by helping guide the appropriate level of treatment intensity depending on the extent of loss of LDLR activity. This data can also contribute to cascade-screening for pathogenic FH variants.

The use of marine sponges dates back thousands of years, and interest in these animals is increasing as new applications are discovered. Their potential is extensive, both in their ancient and still popular use as bath sponges for cosmetics and regarding the more recent discovery of bioactive secondary metabolites mainly of interest for the pharmaceutical industry and the less developed aquariology. Despite their proven biofiltration and ecosystem restoration ability and the biomass supply problem for the interested industries, few integrated multi-trophic aquaculture (IMTA) systems incorporate these invertebrates in their facilities. Therefore, in this brief review, the benefits that marine sponges could bring to rapidly growing IMTA systems are summarized, highlighting their suitability for a circular blue economy.

Microplastics (MPs) pose an increasing and significant threat to marine biodiversity and there is a current need to determine the effects of exposure on benthic sessile invertebrates. This study examines the filtration capacity and retention of MP particles, as well as their physiological impacts in the marine sponge Spongia officinalis, a bioindicator species. The findings revealed a very high filtration capacity for MPs within the size range of 1-5 μm, along with a rapid turnover rate, as a large portion of particles were expelled within 48 h of exposure. Histological analyses detected MP particles within the cellular structures of the analyzed tissues, indicating that MPs of this size can penetrate cellular barriers. In terms of physiological effects, detoxification activity was activated during the depuration phase, and lipid peroxidation was observed during both the exposure and depuration phases. Overall, this study provides critical insights into the filtration and retention capacity, intercellular integration of MP particles, and the physiological effects of MP exposure in S. officinalis, providing a baseline for future research.

With more than 9600 valid species worldwide

Marine sponges have historically been targeted for different purposes, mainly as bath sponges or more recently as a source of bioactive metabolites. However, their use as ornamental species for aquariology is less thoroughly studied. In light of the rise in the importance of sustainable production systems and to valorize the biomass obtained from them, this work assessed the market potential of sustainably reared marine sponges in Italian aquariology. Information was obtained by means of an anonymous questionnaire distributed using social media and printed QR codes targeting Italian aquariophily groups. A total of 101 people from almost all Italian regions participated in the study. Among the people with marine aquariums, almost two-thirds had marine sponges (obtained mainly from fishing discards and trusted shops), and those without them stated that there was no availability in the specialized shops. However, when people were asked about a hypothetical change in purchase intention or frequency of these invertebrates, 68.3% of the respondents showed a positive attitude toward the idea of acquisition. This study constitutes the first preliminary assessment of the valorization potential for sustainably cultivated sponges as ornamental species, which shows a promising prospective in the Italian aquariology sector.