Delving into the Latest Updates on University of Puerto Rico-RÃ­o Piedras with Synapse

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CDC42(Cell division control protein 42 homolog)	1

AbstractBackgroundAmong different ethnic groups, Hispanics rank second in Alzheimer’s disease (AD) prevalence. However, most studies on this condition have been conducted in Europeans. To address this bias in representation we interviewed and collected samples from Caribbean Hispanics living in Puerto Rico; to ascertain the prevalence of ApoE haplotypes and measure their association with the development of AD in this population.MethodInitially, 150 Caribbean Hispanic adults participated in this study (females = 83, males = 68), divided into three groups (n = 50 each): cognitively normal (CN) participants, cardiovascular (CV) and Alzheimer’s disease (AD) patients. Given that heart disease is known to increase Alzheimer’s risk by ∼40%, we included the CV group because these patients will be at risk of AD by the vascular parameter. Clinical and demographic data were collected through questionnaires conducted during recruitments, while genetic testing for ApoE haplotypes was performed using the RT‐PCR‐based TaqMan SNP assay. Allelic and haplotype frequencies were determined.ResultIn the CN group, the ε3ε4 haplotype was detected in 43 subjects (91.4%). Conversely, the ε3ε3 haplotype was found in three subjects (6.38%), while the least common haplotype, ε2ε4, was present in only one subject (2.12%), 95% CI [0.871, 1.04]. Within the CV cohort, 48 subjects were identified as carriers of the ε3ε4 haplotype (96%). Only one subject had the ε3ε3 haplotype (2%), and similarly, one subject harbored the ε2ε4 haplotype, 95% [0.943, 1.056]. In the AD group, the ε3ε4 haplotype was the most prevalent, with 44 carriers (91.6%). In this group, both the ε3ε3 and ε2ε4 haplotypes were each observed in one subject, collectively accounting for 4.16% of the cohort, 95% [0.915,1.08].ConclusionInterestingly, our study revealed that the ε3 and ε4 alleles predominated across the various groups, while the ε2 allele emerged as the least common. Despite multiple reports linking the ε4 allele to an increased risk of AD, in our admixed population it seems that African ancestry enrichment at the ApoE locus potentially mitigates its effect. Further studies are warranted to elucidate the relationship between ancestry and AD risk.

01 Nov 2024·Gene

Ecological forensic testing: Using multiple primers for eDNA detection of marine vertebrates in an estuarine lagoon subject to anthropogenic influences

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Author: Wong, Juliet M ; Eirin-Lopez, Jose M ; Chiquillo, Kelcie L

Many critical aquatic habitats are in close proximity to human activity (i.e., adjacent to residences, docks, marinas, etc.), and it is vital to monitor biodiversity in these and similar areas that are subject to ongoing urbanization, pollution, and other environmental disruptions. Environmental DNA (eDNA) metabarcoding is an accessible, non-invasive genetic technique used to detect and monitor species diversity and is a particularly useful approach in areas where traditional biodiversity monitoring methods (e.g., visual surveys or video surveillance) are challenging to conduct. In this study, we implemented an eDNA approach that used a combination of three distinct PCR primer sets to detect marine vertebrates within a canal system of Biscayne Bay, Florida, an ecosystem representative of challenging sampling conditions and a myriad of impacts from urbanization. We detected fish species from aquarium, commercial, and recreational fisheries, as well as invasive, cryptobenthic, and endangered vertebrate species, including charismatic marine mammals such as the protected West Indian manatee, Trichechus manatus. Our results support the potential for eDNA analyses to supplement traditional biodiversity monitoring methods and ultimately serve as an important tool for ecosystem management. This approach minimizes stress or disturbance to organisms and removes the intrinsic risk and logical limitations of SCUBA diving, snorkeling, or deploying sensitive equipment in areas that are subject to high vessel traffic and/or low visibility. Overall, this work sets the framework to understand how biodiversity may change over different spatial and temporal scales in an aquatic ecosystem heavily influenced by urbanization and validates the use of eDNA as a complementary approach to traditional ecological monitoring methods.

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