Genetic Characterization of Isolated from Human Cysts from Sardinia, Italy

Overview

Journal Diseases

Date 2023 Jul 25

PMID 37489443

Authors

Cinzia Santucciu

Piero Bonelli

Angela Peruzzu

Alessandro Fancellu

Antonella Fara

Scilla Mastrandrea

Giovanni Drocchi

Antonio Cossu

Stefano Profili

Alberto Porcu

Giovanna Masala

Affiliations

Soon will be listed here.

Abstract

This study involved 20 patients affected by cystic echinococcosis (CE) who were referred to different hospitals of Sardinia (Italy) from 2017 to 2022. By means of a multidisciplinary approach, diagnosis was confirmed for CE in 18 patients and for different aetiologies in two subjects. Moreover, serology was positive for 15 subjects. Since multiple CE cysts were found in five patients, a total of 27 lesions were collected; however, only one for each patient was investigated for genetic characterization of DNA isolates. Our results included 15 fertile cysts that underwent DNA extraction and amplification by three different PCRs targeting nuclear () and mitochondrial genes (cox1 and nad5). DNA was sequenced, and by neighbour-joining phylogenetic trees we determined 10 G1 and five G3 genotypes previously reported in Sardinia. These sequences were used to construct a network, along with those circulating in Mediterranean areas. The haplotype network calculated on cox1 evidenced seven different haplotypes of the 15 isolates, with SAR2 the most represented, carried by seven cysts, and SAR17 never described in the Mediterranean area. Meanwhile, the nad5 sequences showed the most common haplotype as nd5SAR7, as well as two new haplotypes not previously described, nd5SAR13, isolated from a Sardinian patient, and nd5SAR14, isolated from a Romanian patient.

Citing Articles

Unusual cholesterol crystal formation in a rare clinical case report of splenic echinococcal cyst in a patient from Sardinia, Italy.

Santucciu C, Hajjafari A, Sadr S, Mastrandrea S, Rettaroli C, Simbula L Front Parasitol. 2025; 3:1498099.

PMID: 39868363 PMC: 11759282. DOI: 10.3389/fpara.2024.1498099.

Immunohistochemistry as a Reliable Tool for the Diagnosis of Cystic Echinococcosis in Patients from Sardinia, Italy-A Confirmatory Study.

Santucciu C, Peruzzu A, Fara A, Cossu A, Kronenberg P, Deplazes P Diseases. 2024; 12(5).

PMID: 38785739 PMC: 11119186. DOI: 10.3390/diseases12050084.

References

Brundu D, Piseddu T, Stegel G, Masu G, Ledda S, Masala G . Retrospective study of human cystic echinococcosis in Italy based on the analysis of hospital discharge records between 2001 and 2012. Acta Trop. 2014; 140:91-6. DOI: 10.1016/j.actatropica.2014.08.011. View

Marcinkute A, Sarkunas M, Moks E, Saarma U, Jokelainen P, Bagrade G . Echinococcus infections in the Baltic region. Vet Parasitol. 2015; 213(3-4):121-31. DOI: 10.1016/j.vetpar.2015.07.032. View

Laurimae T, Kinkar L, Andresiuk V, Haag K, Ponce-Gordo F, Acosta-Jamett G . Genetic diversity and phylogeography of highly zoonotic Echinococcus granulosus genotype G1 in the Americas (Argentina, Brazil, Chile and Mexico) based on 8279bp of mtDNA. Infect Genet Evol. 2016; 45:290-296. DOI: 10.1016/j.meegid.2016.09.015. View

Rostami S, Shariat Torbaghan S, Dabiri S, Babaei Z, Mohammadi M, Sharbatkhori M . Genetic characterization of Echinococcus granulosus from a large number of formalin-fixed, paraffin-embedded tissue samples of human isolates in Iran. Am J Trop Med Hyg. 2014; 92(3):588-94. PMC: 4350555. DOI: 10.4269/ajtmh.14-0585. View

Thompson R . The taxonomy, phylogeny and transmission of Echinococcus. Exp Parasitol. 2008; 119(4):439-446. DOI: 10.1016/j.exppara.2008.04.016. View

Posada D . jModelTest: phylogenetic model averaging. Mol Biol Evol. 2008; 25(7):1253-6. DOI: 10.1093/molbev/msn083. View

de la Rue M, Takano K, Brochado J, Costa C, Soares A, Yamano K . Infection of humans and animals with Echinococcus granulosus (G1 and G3 strains) and E. ortleppi in Southern Brazil. Vet Parasitol. 2011; 177(1-2):97-103. DOI: 10.1016/j.vetpar.2010.11.018. View

Alvi M, Ohiolei J, Saqib M, Li L, Tayyab M, Alvi A . Echinococcus granulosus (sensu stricto) (G1, G3) and E. ortleppi (G5) in Pakistan: phylogeny, genetic diversity and population structural analysis based on mitochondrial DNA. Parasit Vectors. 2020; 13(1):347. PMC: 7359271. DOI: 10.1186/s13071-020-04199-8. View

Casulli A, Interisano M, Sreter T, Chitimia L, Kirkova Z, La Rosa G . Genetic variability of Echinococcus granulosus sensu stricto in Europe inferred by mitochondrial DNA sequences. Infect Genet Evol. 2012; 12(2):377-83. DOI: 10.1016/j.meegid.2011.12.014. View

10.

Pednekar R, Gatne M, Thompson R, Traub R . Molecular and morphological characterisation of Echinococcus from food producing animals in India. Vet Parasitol. 2009; 165(1-2):58-65. DOI: 10.1016/j.vetpar.2009.06.021. View

11.

Kumar S, Stecher G, Li M, Knyaz C, Tamura K . MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol Biol Evol. 2018; 35(6):1547-1549. PMC: 5967553. DOI: 10.1093/molbev/msy096. View

12.

Rozas J, Ferrer-Mata A, Sanchez-DelBarrio J, Guirao-Rico S, Librado P, Ramos-Onsins S . DnaSP 6: DNA Sequence Polymorphism Analysis of Large Data Sets. Mol Biol Evol. 2017; 34(12):3299-3302. DOI: 10.1093/molbev/msx248. View

13.

Zhang L, Eslami A, Hosseini S, McManus D . Indication of the presence of two distinct strains of Echinococcus granulosus in Iran by mitochondrial DNA markers. Am J Trop Med Hyg. 1998; 59(1):171-4. DOI: 10.4269/ajtmh.1998.59.171. View

14.

Alvarez Rojas C, Gauci C, Lightowlers M . Antigenic differences between the EG95-related proteins from Echinococcus granulosus G1 and G6 genotypes: implications for vaccination. Parasite Immunol. 2012; 35(2):99-102. DOI: 10.1111/pim.12009. View

15.

Deplazes P, Rinaldi L, Alvarez Rojas C, Torgerson P, Harandi M, Romig T . Global Distribution of Alveolar and Cystic Echinococcosis. Adv Parasitol. 2017; 95:315-493. DOI: 10.1016/bs.apar.2016.11.001. View

16.

Ohiolei J, Yan H, Li L, Magaji A, Luka J, Zhu G . Cystic echinococcosis in Nigeria: first insight into the genotypes of Echinococcus granulosus in animals. Parasit Vectors. 2019; 12(1):392. PMC: 6686243. DOI: 10.1186/s13071-019-3644-z. View

17.

Cucher M, Macchiaroli N, Baldi G, Camicia F, Prada L, Maldonado L . Cystic echinococcosis in South America: systematic review of species and genotypes of Echinococcus granulosus sensu lato in humans and natural domestic hosts. Trop Med Int Health. 2015; 21(2):166-75. DOI: 10.1111/tmi.12647. View

18.

Romig T, Ebi D, Wassermann M . Taxonomy and molecular epidemiology of Echinococcus granulosus sensu lato. Vet Parasitol. 2015; 213(3-4):76-84. DOI: 10.1016/j.vetpar.2015.07.035. View

19.

Nakao M, Sako Y, Yokoyama N, Fukunaga M, Ito A . Mitochondrial genetic code in cestodes. Mol Biochem Parasitol. 2001; 111(2):415-24. DOI: 10.1016/s0166-6851(00)00334-0. View

20.

Kinkar L, Laurimae T, Simsek S, Balkaya I, Casulli A, Manfredi M . High-resolution phylogeography of zoonotic tapeworm Echinococcus granulosus sensu stricto genotype G1 with an emphasis on its distribution in Turkey, Italy and Spain. Parasitology. 2016; 143(13):1790-1801. DOI: 10.1017/S0031182016001530. View