Coping and Adaptation in Response to Environmental and Climatic Stressors in Caribbean Coastal Communities.

Cumulative and synergistic impacts from environmental pressures, particularly in low-lying tropical coastal regions, present challenges for the governance of ecosystems, which provide natural resource-based livelihoods for communities. Here, we seek to understand the relationship between responses to the impacts of El Niño and La Niña events and the vulnerability of mangrove-dependent communities in the Caribbean region of Colombia. Using two case study sites, we show how communities are impacted by, and undertake reactive short-term responses to, El Niño and La Niña events, and how such responses can affect their adaptive capacity to progressive environmental deterioration. We show that certain coping measures to climate variability currently deliver maladaptive outcomes, resulting in circumstances that could contribute to system 'lock-in' and engender undesirable ecological states, exacerbating future livelihood vulnerabilities. We highlight the significant role of social barriers on vulnerabilities within the region, including perceptions of state abandonment, mistrust and conflicts with authorities. Opportunities to reduce vulnerability include enhancing the communities' capacity to adopt more positive and preventative responses based on demonstrable experiential learning capacity. However, these will require close cooperation between formal and informal organisations at different levels, and the development of shared coherent adaptation strategies to manage the complexity of multiple interacting environmental and climatic pressures.

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. This gene, located in the 3p25-26 chromosome, is a tumor suppressor gene associated with the inhibition of angiogenesis and apoptosis, cell cycle exit, fibronectin matrix assembly, and proteolysis. To define the molecular basis of VHL in a Spanish population, we studied 33 patients suspected of suffering familial or de novo VHL disease and two familial pheochromocytoma cases. Sequence analysis of the coding regions of the VHL gene revealed germline sequence variants in 68.7% (24 out of 35) of the patients, and four of them presented with undescribed germline alterations: g.5429-5430insG, p.Leu128Arg, p.Tyr175Cys, and p.Tyr175Asn. For the remaining 11 patients who showed negative for point mutations, we performed Southern blot analysis and detected gross rearrangements in eight cases (22.8% of the index cases). Our results support the relevance of VHL gene analysis in familial pheochromocytoma cases and also in those with no familial history. In order to investigate the relevance of different amino acid changes in the VHL phenotype, we also analyzed the genotype-phenotype correlations using structural analysis to assess protein stability and complexes. The association of clear cell renal carcinoma (CCRC) development with a relatively high loss of structural stability in pVHL missense-mutants was consistent. Structural stability data in the genotype-phenotype correlations therefore provides us with a better understanding of VHL clinical implications. It is also a suitable approach to the evaluation of unknown significance changes.