Anti-CFH monoclonal antibody, clone OX-23

The search for treatment of aging and age-related diseases is a public health issue. Sea cucumber (Cucumaria frondosa) hydrolysate (CFH) prepared by enzymatic hydrolysis and purified by ultrafiltration was examined for its peptide profile and ability to prevent and/or delay aging in fruit flies and age-related neurodegenerative disorders in o-galactose-induced aging mice. CFH contained peptides with low molecular weights (mainly < 3 kDa), Ala, Val and Leu at the N-terminal end and aromatic/hydrophobic/acidic amino acids in sequence. We provided the first in vivo evidence that CFH significantly prolonged the lifespan of fruit flies and ameliorated learning and memory deficits of o-galactose-induced aging mice. The mechanism underlying its protective effect might be associated with the ability to up-regulate Klotho expression, increase the activities of SOD and GSH-Px, inhibit lipid peroxidation and protein oxidation, and down-regulate acetylcholinesterase activity. CFH could be a health-promoting ingredient in coping with aging and age-related diseases.

Purpose: North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a nonprogressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy in a family (MOL1154) consisting of six affected subjects with a highly variable maculopathy phenotype in which no correlation between age and severity exists. Methods: Clinical characterization included visual acuity testing and electroretinography. Genetic analysis included Sanger sequencing and whole exome sequencing (WES). Results: WES analysis performed on DNA samples from two individuals revealed a heterozygous deletion of six nucleotides [c.2247_2252del; p.(Leu750_Lys751del)] in the CFH gene. Co-segregation analysis revealed that five of the six NCMD affected subjects carried this deletion, while one individual who had a relatively mild phenotype compatible with dry age-related macular degeneration (AMD) did not carry it. We subsequently analyzed the upstream region of PRDM13 that has previously been reported to be associated with NCMD and identified a unique heterozygous transversion (chr6:100040974A>C) located within the previously described suspected control region in all six affected individuals. This transversion is likely to cause NCMD. Conclusions: NCMD has a wide spectrum of clinical phenotypes that can overlap with AMD, making it challenging to correctly diagnose affected individuals and family members. The DNA sequence variant we found in the CFH gene of some of the affected family members may suggest some role as a modifier gene. However, this variant still does not explain the huge phenotypic variability of NCMD and needs to be studied in other and larger populations.