Publications by authors named "A Forlino"
Aims: Osteogenesis imperfecta (OI) is a collagen I-related heritable family of skeletal diseases associated to extreme bone fragility and deformity. Its classical forms are caused by dominant mutations in COL1A1 and COL1A2, which encode for the protein α chains, and are characterized by impairment in collagen I structure, folding, and secretion. Mutant collagen I assembles in an altered extracellular matrix affecting mineralization and bone properties and partially accumulating inside the cells, leading to impaired trafficking and cellular stress.
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- Desbuquois dysplasia type 1 (DBQD1) is a rare genetic disorder linked to mutations in the CANT1 gene, which affects the production of important molecules in cartilage.
- Researchers used knock-out mice to show that CANT1 is essential for synthesizing glycosaminoglycans (GAGs), but its specific effects on cartilage proteins were still unclear.
- They found that the GAG synthesis issue in mutant mice resulted in shorter GAG chains in cartilage proteins like decorin and aggrecan, without producing unglycanated forms, and similar changes were also noted in skin decorin.
In the last decades, the easy genetic manipulation, the external fertilization, the high percentage of homology with human genes and the reduced husbandry costs compared to rodents, made zebrafish a valid model for studying human diseases and for developing new therapeutical strategies. Since zebrafish shares with mammals the same bone cells and ossification types, it became widely used to dissect mechanisms and possible new therapeutic approaches in the field of common and rare bone diseases, such as osteoporosis and osteogenesis imperfecta (OI), respectively. OI is a heritable skeletal disorder caused by defects in gene encoding collagen I or proteins/enzymes necessary for collagen I synthesis and secretion.
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- * In research using a mouse model that mimics ARO, gene therapy (GT) with lentiviral vectors effectively improved bone density and allowed for long-term survival, while also enhancing the collection of necessary stem cells through a method called plerixafor-induced mobilization.
- * The study suggests that non-genotoxic conditioning before transplantation can lead to better outcomes, including stable stem cell engraftment and improved bone health, providing a
Article Synopsis
- Osteogenesis imperfecta (OI) is a hereditary condition characterized by faulty collagen type I, which can affect lung function and increase the risk of respiratory diseases.
- A nationwide study in Denmark compared hospital admission rates for asthma, COPD, and pneumonia between individuals with OI and a reference population from 1995 to 2018.
- Results showed higher admission rates for women over 65 and boys aged 0-18 with OI, indicating a relative increase in hospitalization risk for respiratory issues despite overall low admissions in the OI cohort.