Biotechnological synthesis of succinic acid by actinobacillus succinogenes by exploitation of lignocellulosic biomass

Succinic acid is increasingly used in pharmaceutical industries, for the production of additives in food industries, in agriculture and in refinery processes as a precursor of many chemical compounds among which the most important is the succinate salt. It is also used as an ion chelator and surfactant, and for the biochemicals production. Currently, succinic acid is mainly produced through chemical petroleum-based processes, usually from n-butane using maleic anhydride. However, the use of petrochemical feedstocks raises serious environmental problems, due to the higher values of temperature and pressure required. The biotechnological production of succinic acid by microbial conversion of lignocellulosic biomass is attracting growing interest due to the environmental and economic advantages offered. This research is focused on the exploitation of Arundo donax (Giant reed) as a source of lignocellulosic biomass. Arundo donax is a perennial crop particularly suitable for energy production, as it offers high yields per hectare, even in partially fertile or polluted soils, not used for agriculture. Hydrolyzate of Arundo donax will be used as growth media for the Actinobacillus succinogenes 130Z, a bacterium typically found in the bovine rumen, that is recognized as one of the most promising for the biotechnological production of succinic acid, as it is able to produce higher concentrations of succinic acid. The experimental analysis is carried out to optimize the production of succinic acid taking into account the effect of the most critical parameters of the process (microbial biomass, pH, reducing sugars, volatile fatty acids, and succinic acid). Tests have shown that in 48h the sugars are completely biodegraded with a total production of bio-succinic acid of 5.9 g for 9.1 g of reducing sugars, an hourly production 0.12 g h-1 with a yield equal to 65%

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive form of the disease, carrying a missense pathogenic variant in FUS gene. We reprogrammed somatic cells using an established Sendai virus protocol and we obtained clones of iPSC. We confirmed their stemness and further generated embryoid bodies, showing their potential of differentiating in all three germ layers. This iPSC line, carrying a pathogenic FUS variant, is a valuable tool to deeply investigate pathogenic mechanisms leading to ALS

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unrelated families with one FXS child and another sibling presenting mild intellectual disability and behavioral features evocative of FXS. Genetic characterization of the undiagnosed sibling revealed mosaicism in both the CGG expansion size and the methylation levels in the different tissues analyzed. This report shows that in the same family, two siblings carrying different CGG repeats, one in the full-mutation range and the other in the premutation range, present methylation mosaicism and consequent decreased FMRP production leading to FXS and FXS-like features, respectively. Decreased FMRP levels, more than the number of repeats seem to correlate with the severity of FXS clinical phenotypes

Advances in understanding – genetic basis of intellectual disability [version 1; referees: 2 approved]

Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with other mental conditions like attention deficit/hyperactivity disorder and autism spectrum disorder, and can be part of a malformation syndrome that affects other organs. Considering the heterogeneity of its causes (environmental and genetic), its frequency worldwide varies greatly. This review focuses on known genes underlying (syndromic and non-syndromic) intellectual disability, it provides a succinct analysis of their Gene Ontology, and it suggests the use of transcriptional profiling for the prioritization of candidate genes