Dataset Information

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

ABSTRACT: The human genome encodes a gene for an enzymatically active chitinase (CHIT1) located in a single copy on Chromosome 1, which is highly expressed by activated macrophages and in other cells of the innate immune response. Several dysfunctional mutations are known in CHIT1, including a 24-bp duplication in Exon 10 causing catalytic deficiency. This duplication is a common variant conserved in many human populations, except in West and South Africans. Thus it has been proposed that human migration out of Africa and the consequent reduction of exposure to chitin from environmental factors may have enabled the conservation of dysfunctional mutations in human chitinases. Our data obtained from 85 indigenous Amerindians from Peru, representative of populations characterized by high prevalence of chitin-bearing enteroparasites and intense entomophagy, reveal a very high frequency of the 24-bp duplication (47.06%), and of other single nucleotide polymorphisms which are known to partially affect enzymatic activity (G102S: 42.7% and A442G/V: 25.5%). Our finding is in line with a founder effect, but appears to confute our previous hypothesis of a protective role against parasite infection and sustains the discussion on the redundancy of chitinolytic function.

SUBMITTER: Manno N

PROVIDER: S-EPMC4194353 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

Manno N N Sherratt S S Boaretto F F Coico F Mejìa FM Camus C Espinoza CE Campos C Jara CJ Musumeci S S Battisti A A Quinnell R J RJ León J Mostacero JM Vazza G G Mostacciuolo M L ML Paoletti M G MG Falcone F H FH

Carbohydrate polymers 20140716

The human genome encodes a gene for an enzymatically active chitinase (CHIT1) located in a single copy on Chromosome 1, which is highly expressed by activated macrophages and in other cells of the innate immune response. Several dysfunctional mutations are known in CHIT1, including a 24-bp duplication in Exon 10 causing catalytic deficiency. This duplication is a common variant conserved in many human populations, except in West and South Africans. Thus it has been proposed that human migration ...[more]

PMID: 25256524

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Project description:To better query regional sources of metal(loid) exposure in an under-communicated region, available scientific literature from 50 national universities (undergraduate and graduate theses and dissertations), peer-reviewed journals, and reports published in Spanish and English were synthesized with a focus on metal(loid) bioaccumulation in Peruvian food and medicinal products utilized locally. The study considered 16 metal(loid)s that are known to exert toxic impacts on humans (Hg, Al, Sb, As, Ba, Be, Cd, Cr, Sn, Ni, Ag, Pb, Se, Tl, Ti, and U). A total of 1907 individual analyses contained within 231 scientific publications largely conducted by Peruvian universities were analyzed. These analyses encompassed 239 reported species classified into five main food/medicinal groups-plants, fish, macroinvertebrates and mollusks, mammals, and "others" category. Our benchmark for comparison was the World Health Organization (Codex Alimentarius) standards. The organisms most frequently investigated included plants such as asparagus, corn, cacao, and rice; fish varieties like trout, tuna, and catfish; macroinvertebrates and mollusks including crab and shrimp; mammals such as alpaca, cow, chicken eggs, and milk; and other categories represented by propolis, honey, lichen, and edible frog. Bioaccumulation-related research increased from 2 to more than 25 publications per year between 2006 and 2022. The results indicate that Peruvian food and natural medicinal products can have dangerous levels of metal(loid)s, which can cause health problems for consumers. Many common and uncommon food/medicinal products and harmful metals identified in this analysis are not regulated on the WHO's advisory lists, suggesting the urgent need for stronger regulations to ensure public safety. In general, Cd and Pb are the metals that violated WHO standards the most, although commonly non-WHO regulated metals such as Hg, Al, As, Cr, and Ni are also a concern. Metal concentrations found in Peru are on many occasions much higher than what has been reported elsewhere. We conclude that determining the safety of food/medicinal products is challenging due to varying metal concentrations that are influenced not only by metal type but also geographical location. Given the scarcity of research findings in many regions of Peru, urgent attention is required to address this critical knowledge gap and implement effective regulatory measures to protect public health.

Dataset Information

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

Publications

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

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