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Background: Copper oxide (Cu2O) nanoparticles (CO NPs) are in extensive use during our everyday life as antimicrobial agent, lubricant, in manufacturing electrodes of lithium ion batteries as well as for photo catalytic degradation of organic pollutants. Due to extensive and diverse use Cu2O NPs, they are likely to accumulate in the environment and to affect the live forms. Present investigation was aimed to report the biocompatibility of CO NPs in Wistar rats in sex specific manner. CO NPs, having average diameter of 14.06 nm, were synthesized by co-precipitation method and scanning electron microscopy and X ray diffraction were used for their characterization. Methods: For 14 consecutive days, Wistar rats (6 weeks old) of both sexes were intraperitoneally injected with 10 mg/mL saline/Kg body weight of CO NPs, while the control groups intraperitoneally received saline solution for same duration. Behavioral tests (open field and novel object recognition), complete blood count, selected biomarkers of oxidative stress and Copper concentration in brain and liver were determined in all subjects. Results: High mortality rates [male 40% and female 60%] were observed in rats exposed to CO NPs. A sever decrease in body weight was also observed in both male and female rats exposed to CO NPs. Female rats treated with CO NPs spent significantly more time with novel object as compared to control [P = 0.05] during second trial of novel object test. CO NPs treated female rats had higher mean corpuscular hemoglobin [P < 0.001] levels and Copper concentration in liver [P = 0.04] than control. Male rats exposed to CO NPs had significantly higher mean corpuscular volume [P = 0.02] and superoxide dismutase [SOD] [P = 0.04] in lungs than their control group. All other studied parameters non significantly varied upon comparison between CO NPs treated and untreated rats of both sex. Conclusion: In conclusion, we are reporting that intraperitoneal injections of CO NPs for 14 days can disturb complete blood count and biomarkers of oxidative stress in lungs of Wistar rats.
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Fort Munro is a hill station in Southern Punjab the residents of whom are heavily dependent upon livestock for their living but ticks are a big treat for the livestock. The purpose of this study was to ascertain the tick infestation among the small ruminants of Fort Munro. Ticks (N = 273) were collected from 333 animals (165 goats and 168 sheep) during August and September 2022. Two tick genera Hyalomma and Rhipicephalus were identified. Rhipicephalus was most abundant tick genera (78.02%) followed by Hyalomma (21.98%).Tick distribution significantly varied with the host: Rhipicephalus ticks were more frequently infesting goats while Hyalomma were more common on sheep. For both hosts, tick infestation varied with the sampling sites and male animals were significantly more infested than females. Five tick species were infesting goats with the following relative abundance: Rhipicephalus (R.) senegalensis (39.20%) > R. sanguineus (36.8%) > R. appendiculatus (10.40%) > R. turanicus (8%) > R. guilhoni (5.6%). Rhipicephalus senegalensis (41.22%) was also the most common tick species infesting sheep followed by Hyalomma (H.) marginatum (29.73%), R. guilhoni (18.24%), H. dromedarii (5.41%) and H. impeltatum (5.41%). Male ticks very more abundantly on both goats and sheep than female. Distribution of Hyalomma species also varied between the sampling sites. In conclusion, we are reporting the infestation of 3 Hyalomma and 5 Rhipicephalus in small ruminants of Fort Munro. The data generated through this study will help in developing appropriate tick control in the study area and will add to the existing knowledge regarding tick species that are infesting the small ruminants of Pakistan.
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Doenças das Cabras , Cabras , Ixodidae , Doenças dos Ovinos , Infestações por Carrapato , Animais , Infestações por Carrapato/veterinária , Infestações por Carrapato/epidemiologia , Infestações por Carrapato/parasitologia , Paquistão/epidemiologia , Doenças das Cabras/epidemiologia , Doenças das Cabras/parasitologia , Ovinos , Doenças dos Ovinos/epidemiologia , Doenças dos Ovinos/parasitologia , Feminino , Prevalência , Masculino , Ixodidae/classificação , Ixodidae/fisiologia , Rhipicephalus/fisiologiaRESUMO
Raising small ruminants is the main source of income for farmers in Pakistan especially in rural areas of Dera Ghazi Khan in Punjab. Despite having large sheep population, the prevalence of intra-erythrocytic protozoa, Theileria (T.) lestoquardi, has never been reported from this area. This study was conducted to fill this knowledge gap and 333 blood samples of apparently healthy small ruminants (168 sheep and 165 goats) along with their epidemiological data were collected from Dera Ghazi Khan district during August till November 2022. The polymerase chain reaction (PCR) analysis amplified a 785 base pair amplicon specific for the Merozoite surface antigen (ms 1-2) gene of T. lestoquardi in 2 out of the 168 (3.3%) sheep blood samples, while no goat blood sample out of 165 was found to be infected with T. lestoquardi. DNA sequencing confirmed the presence of Theileria lestoquardi in both samples and phylogenetic analysis revealed that these amplicon resembled the partial ms 1-2 gene sequences detected in small ruminants from Pakistan, India Iran and Egypt. All the studied epidemiological factors (age, sex, breed, size of herd, dogs with herd, composition of herd, size of herd and Tick burden on sheep) were not found associated with the prevalence of T. lestoquardi. In conclusion, this study reports a low prevalence of T. lestoquardi infection in the Dera Ghazi Khan District of Punjab, Pakistan. The data generated from this work will help pave the way for the prophylactic detection and control of ovine and caprine theileriosis in the region.
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Cabras , Filogenia , Doenças dos Ovinos , Theileria , Theileriose , Animais , Theileria/genética , Theileria/classificação , Theileria/isolamento & purificação , Theileriose/epidemiologia , Theileriose/parasitologia , Theileriose/sangue , Ovinos/parasitologia , Paquistão/epidemiologia , Cabras/parasitologia , Prevalência , Doenças dos Ovinos/parasitologia , Doenças dos Ovinos/epidemiologia , Doenças dos Ovinos/sangue , Fatores de Risco , Doenças das Cabras/parasitologia , Doenças das Cabras/epidemiologia , Doenças das Cabras/sangue , Feminino , MasculinoRESUMO
This study investigates the molecular prevalence and phylogenetic characteristics of two prominent blood-borne pathogens, Toxoplasma gondii (T. gondii) and Plasmodium spp., in common quails (Coturnix coturnix) sampled from both wild (N = 236) and farmed (N = 197) populations across four districts (Layyah, Dera Ghazi Khan, Lahore, and Multan) in Punjab, Pakistan, during the hunting seasons from 2021 to 2023. Additionally, the impact of these pathogens on the complete blood count (CBC) of the hosts is examined. Out of 433 quails tested, 25 (5.8%) exhibited amplification of the internal transcribed spacer (ITS-1) gene for T. gondii, while 15 (3.5%) showed amplification of the Cytochrome b gene for Plasmodium spp. A risk factor analysis indicated that the prevalence of both pathogens was not confined to specific sampling sites or bird sexes (P > 0.05). District-wise analysis highlighted that hens were more susceptible to both T. gondii and Plasmodium spp. infections than cocks. Wild quails exhibited a higher susceptibility to T. gondii compared to farmed birds. Significant CBC variations were recorded in infected birds as compared to uninfected ones. BLAST analysis of generated sequences has confirmed the identity of recovered PCR amplicons as T. gondii and Plasmodium relictum. Phylogenetic analysis revealed that Pakistani isolates clustered with those reported from various countries globally. This study provides the first documentation of T. gondii and Plasmodium sp. infections in Pakistani quails, underscoring the need for detailed investigations across different regions to enhance our understanding of infection rates and the zoonotic potential of these parasites.
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Filogenia , Plasmodium , Toxoplasma , Toxoplasmose Animal , Animais , Paquistão/epidemiologia , Toxoplasma/genética , Plasmodium/genética , Plasmodium/isolamento & purificação , Plasmodium/classificação , Prevalência , Toxoplasmose Animal/epidemiologia , Toxoplasmose Animal/parasitologia , Coturnix/parasitologia , Feminino , Malária Aviária/epidemiologia , Malária Aviária/parasitologia , Masculino , Doenças das Aves Domésticas/parasitologia , Doenças das Aves Domésticas/epidemiologiaRESUMO
Domestic yak (Bos grunniens) is an economically important feature of the mountainous region of Gilgit-Baltistan in Pakistan where agriculture is restricted and yaks play multiple roles which includes being a source of milk, meat, hides, fuel and power. However little is known about the parasitic infections in Pakistani yaks. Aim of this research was to report the prevalence and genetic diversity of protozoa parasite (Theileria ovis, 18 S rDNA gene was targeted) and an obligate bacterium (Anaplasma marginale, msp-1 gene was amplified) in the blood that was sampled from 202 yaks collected from four districts in Gilgit-Baltistan during January 2023 till January 2024. Results revealed that 6/202 (3%) yaks were of Theileria ovis while 8/202 (4%) were Anaplasma marginale infected. Positive PCR products of both parasites were confirmed by DNA sequencing and their similarity with previously available pathogen sequences was determined by BLAST analysis. Phylogenetic tree indicated that isolates of both parasites displayed genetic. Anaplasma marginale infection varied with the sampling districts and Shigar district had the highest rate of bacterial infection. Cows were significantly more prone to Theileria ovis infection than bulls. Calf and hybrid yaks were more prone to Anaplasma marginale infection. In conclusion, this is the first report that yaks residing the Gilgit-Baltistan region in Pakistan are infected with Theileria ovis and Anaplasma marginale. Similar larger scales studies are recommended in various regions of Gilgit-Baltistan to document the infection rates of these parasites to formulate strategies that will lead to the effective control of these pathogens.
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Anaplasma marginale , Anaplasmose , Theileria , Carrapatos , Feminino , Bovinos , Animais , Ovinos , Anaplasma marginale/genética , Theileria/genética , Paquistão/epidemiologia , Anaplasma/genética , Prevalência , Carrapatos/microbiologia , Carrapatos/parasitologia , Filogenia , Anaplasmose/epidemiologia , Anaplasmose/microbiologiaRESUMO
Order Rodentia is the most speciose among mammals and the members of this order are known to host more than 60 zoonotic diseases and rodents are a potential health threat to humans. This study was designed to report the molecular prevalence and phylogenetic evaluation of various blood borne bacterial pathogens (Anaplasma ovis, Anaplasma phagocytophilum, Anaplasma marginale and Bartonella spp.) in the blood samples of four wild rodent species [Meriones rex (N = 27), Acomys dimidiatus (N = 18), Myomys yemeni (N = 6) and Rattus rattus (N = 3)] that were trapped during August till October 2020 from Al Makhwah governorate in Saudi Arabia. Results revealed by 9/54 (16.6%) rodents amplified Msp4 gene and 2/54 (3.7%) rodents amplified rpoB gene of Anaplasma ovis and Bartonella spp. respectively. Anaplasma phagocytophilum and Anaplasma marginale were not detected among enrolled rodent species. Meriones rex was the most highly infected rodent species. DNA sequencing and BLAST analysis confirmed the presence of Anaplasma ovis and the Bartonella koehlerae in rodent blood samples. Phylogenetic analysis of both pathogens showed that Saudi isolates were clustered together and were closely related to isolates that were reported from worldwide countries. Risk factor analysis revealed that prevalence of both bacterial pathogens was not restricted to a particular rodent species or a rodent sex (P > 0.05). In conclusion, we are reporting for the very first time that Saudi rodents are infected with Anaplasma ovis and rodents can be infected with Bartonella koehlerae. Similar studies at large scale are recommended in all those areas of Saudi Arabia that are unexplored for the incidence and prevalence of bacterial pathogens among the rodents that are living near human dwellings in order to prevent bacterial infections in local people as well as in livestock.
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Anaplasma phagocytophilum , Anaplasma , Bartonella , Animais , Humanos , Arábia Saudita/epidemiologia , Prevalência , Filogenia , GerbillinaeRESUMO
Economy of Pakistan is heavily dependent upon agriculture and extensive use of pesticide is quiet common to enhance the crop yield. Imidacloprid is among the first choice pesticides in Pakistan and it has been reported that through run off along with water it ends up in water bodies affecting non target aquatic fauna. Through the present investigation, we are reporting the effects of Imidacloprid on the fatty acids composition of a non-target, commercially important carp: Labeo rohita. Fish were exposed to sub lethal concentration of Imidacloprid (120 mgL1) for 2, 4 and 8 days (short term) as well as for 16, 32 and 64 days (long term experimental conditions). Pesticide untreated controls were also maintained for each treatment. Following the specific Imidacloprid exposure, fatty acid composition (%) was determined in the muscle of all experimental groups by using gas chromatography. Fish exposed to Imidacloprid for 8 days had reduced Palmitic acid (p = 0.02) and elevated muscle Arachidic acid (p < 0.001) than control group. Labeo rohita exposed to the pesticide for 32 days had elevated muscle Oleic (p = 0.02) and Linoleic acid (p = 0.02) while fish exposed to Imidacloprid to 64 days had reduced muscle Palmitic (p = 0.04) and Oleic acid (p = 0.03). In conclusion, we are reporting that the exposure to sub lethal concentration of Imidacloprid disturb the muscle fatty acid composition of Labeo rohita that may affect its food quality. The effects were more pronounced under long term experimental conditions and were probably due to potentiating lipid peroxidation and disturbed fish metabolism upon Imidacloprid exposure.
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Cyprinidae , Neonicotinoides , Nitrocompostos , Praguicidas , Animais , Ácidos Graxos , Praguicidas/metabolismo , Músculos , Água Doce , Água/metabolismoRESUMO
Anaplasma marginale (A. marginale), Anaplasma ovis (A. ovis) and Theileria ovis (T. ovis) are among the most commonly reported intracellular tick borne pathogens that infect ruminants across the globe causing huge economic losses. This study aims to report the prevalence and phylogenetic evaluation of these three pathogens infecting sheep and goats (n = 333) that were enrolled from Fort Munro region in Pakistan by using msp1b, msp4 and 18S rRNA genes for A. marginale, A. ovis and T. ovis respectively. Results revealed almost similar infection rates in sheep and goats with an overall prevalence of 11% for A. marginale, 28% for A. ovis and 3% for T. ovis. Concurrent infection was also recorded, however, the number of animals infected with two pathogens (n = 24; 7.2%) was higher than infection with three pathogens (n = 2; 0.6%). Risk factor analysis revealed that sheep reared in small herds had higher A. marginale (P = 0.03) and A. ovis (P = 0.04) infection rates compared to those from large herds. In addition, it was observed that bucks (P ≤ 0.05) and tick-free goats (P ≤ 0.05) exhibited higher A. ovis infection rates than nannies. Phylogenetic analysis of all three pathogens showed that Pakistani isolates were clustered together and were closely related to previously deposited Pakistani isolates as well as with those that were reported from worldwide countries. In conclusion, we are reporting that Pakistani sheep and goats have A. marginale, A. ovis and T. ovis mediated infections and control measures should be taken against them to improve the productivity of the livestock sector.
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Anaplasma marginale , Anaplasma ovis , Anaplasmose , Doenças dos Ovinos , Theileria , Carrapatos , Ovinos , Animais , Theileria/genética , Anaplasma marginale/genética , Anaplasma ovis/genética , Filogenia , Anaplasmose/epidemiologia , Cabras , Paquistão/epidemiologia , Prevalência , Ruminantes , Doenças dos Ovinos/epidemiologia , AnaplasmaRESUMO
Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects. Nerve conduction study (NCS) and electromyography (EMG) were performed for the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was applied to report the genetic basic of CMT. The NCS findings revealed that sensory and motor nerve conduction velocities for both families were <38 m/s. EMG presented denervation, neuropathic motor unit potential, and reduced interference pattern of peripheral nerves. WES identified that a novel nonsense mutation (c. 226 G>T) in GADP1 gene and a previously known missense mutation in MFN2 gene (c. 334 G>A) cause CMT4A (Charcot-Marie-Tooth disease type 4A) in the PAK-CMT1-DG KHAN family and CMT2A (Charcot-Marie-Tooth disease type 2A) in the PAK-CMT2-LAYYAH family, respectively. Mutations followed Mendelian pattern with autosomal recessive mode of inheritance. Multiple sequence alignment by Clustal Omega indicated that mutation-containing domain in both genes is highly conserved, and in situ analysis revealed that both mutations are likely to be pathogenic. We reported that a novel nonsense mutation and a previously known missense mutation in GAPD1 gene and MFN2 gene, respectively, cause CMT in consanguineous Pakistani families.
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Doença de Charcot-Marie-Tooth , Doenças Neurodegenerativas , Humanos , Doença de Charcot-Marie-Tooth/genética , Códon sem Sentido/genética , Consanguinidade , GTP Fosfo-Hidrolases/genética , Proteínas Mitocondriais/genética , Mutação , Paquistão , LinhagemRESUMO
Background: Anaplasma ovis is an intra-erythrocytic gram negative rickettsial bacterium that infects small ruminants, resulting in huge economic losses worldwide. Materials and Methods: The present investigation aims at reporting the molecular prevalence of A. ovis in 1200 asymptomatic goats that were enrolled from 4 districts (Layyah, Lohdran, Dera Ghazi Khan, and Rajanpur) in Punjab, Pakistan by targeting the msp4 gene of bacterium. Risk factors associated with the prevalence of A. ovis and phylogeny of bacterium were also documented. Results: 184 out of 1200 (15%) goat blood samples were infected with A. ovis. The prevalence of the pathogen varied with the sampling sites (p = 0.005), and the highest prevalence was detected in goats from Layyah (19%) followed by Rajanpur (17%), Dera Ghazi Khan (15%), and Lohdran district (9%). The represented partial msp4 gene amplicon was confirmed by Sanger sequencing and deposited to GenBank (OP225957-59). Phylogenetic analysis revealed that the amplified isolates resembled the msp4 sequences reported from Iran, Mangolia, Sudan, and the United States. Sex and age of goats, herd composition and size, and the presence of ticks on goats and dogs associated with herds were the rick factors associated with the prevalence of A. ovis. Red blood cells, lymphocytes (%), neutrophils (%), hemoglobin, and hematocrit levels in blood and Aspartate amino transferase, urea, and creatinine levels in serum were disturbed in A. ovis infected goats when compared with uninfected animals. Conclusion: We are reporting the prevalence of A. ovis in Pakistani goats from four districts of Punjab and these data will help in developing the integrated control policies against this tick-borne pathogen that is infecting our goat breeds.
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Anaplasma ovis , Anaplasmose , Doenças do Cão , Doenças das Cabras , Doenças dos Ovinos , Carrapatos , Animais , Ovinos , Cães , Anaplasma ovis/genética , Anaplasmose/microbiologia , Filogenia , Cabras/microbiologia , Paquistão/epidemiologia , Carrapatos/microbiologia , Ruminantes , Anaplasma , Doenças das Cabras/epidemiologia , Doenças das Cabras/microbiologia , Prevalência , Doenças dos Ovinos/epidemiologia , Doenças dos Ovinos/microbiologiaRESUMO
Caprine theileriosis, caused by Theileria ovis is a serious production issue, especially in the areas that depend on goats and sheep for milk, meat, and other economic benefits. Pakistan has a large goat population, but few reports have been documented from this country regarding PCR-based detection of T. ovis. The molecular prevalence of T. ovis, on a seasonal basis, in various goat breeds enrolled from Muzaffar Garh district of Punjab in Pakistan was determined from October 2018 to September 2019. In this study, 1084 goat blood samples were screened for the detection of T. ovis DNA through PCR-based amplification of 18S rRNA gene. Out of 1084 goats, 12 (1.11%) were infected with T. ovis. The parasite prevalence varied with the sampling seasons (Chi square test, P = 0.008), and the parasite prevalence was highest in goat blood samples collected in summer (2.39%) followed by winter (1.88%). DNA sequencing and BLAST analysis confirmed the presence of T. ovis, and the amplified isolates from the 18S rRNA gene of T. ovis were found to be highly conserved during phylogenetic analysis. Young goats (Fischer exact test, P = 0.022) were found more infected with T. ovis during the winter season. Infected goats had elevated white blood cell counts (Two-sample t-test, P = 0.04), blood urea nitrogen to Creatinine ratio (Two-sample t-test, P = 0.02) and decreased serum Creatinine (Two-sample t-test, P = 0.001) as compared to T. ovis negative goats. We report a relatively low molecular prevalence of T. ovis in goats from the Muzaffar Garh district. However, it is recommended that control measures to eradicate T. ovis infection in goats in this area should be taken.
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Theileria , Theileriose , Animais , Ovinos , Bovinos , Theileria/genética , Cabras , Paquistão/epidemiologia , Filogenia , Theileriose/epidemiologia , RNA Ribossômico 18S/genéticaRESUMO
Theileria annulata (T. annulata) and Anaplasma marginale (A. marginale) are among the most extensively reported tick borne pathogens and are associated with huge economic losses worldwide. A total of 298 cattle blood samples were screened to report the presence of these two pathogens. The samples were collected from apparently healthy cattle (Achai, n = 155, Jersy, n = 88 and crossbred, n = 55) in Bajaur district of Khyber Pakhtunkhwa (KPK) during June and July of 2022. A total of 31 out of 298 cattle (10.4%) were found infected with T. annulata as PCR amplified a 156 base pair fragment from Tams-1 gene of T. annulata from their blood. While 16/298 animals (5.4%) were found infected with A. marginale as they amplified a 382 base pair fragment specific for msp5 gene of this bacterium. Three animals (1%) were found co infected. Cattle susceptibility to T. annulata infection was significantly higher than A. marginale infection (P < 0.001). Phylogenetic analysis revealed that Pakistani isolates of both detected pathogen clustered together and were closely related isolates from worldwide countries. Prevalence of T. annulata varied significantly among the sampling sites (P = 0.05) while no such association was observed for A. marginale among the tested cattle. Epidemiological data analysis revealed that none of the studied risk factors was found associated either with the prevalence of T. annulata or A. marginale (P > 0.05) among enrolled cattle. In conclusion, our study has revealed a relatively higher prevalence of T. annulata than A. marginale in cattle from the Bajaur district in KPK. This information is important for improving the productivity of the livestock sector, which is one of the main sources of income in the country. It is recommended that this data be taken into account for the development and implementation of effective tick control programs, as well as for the improvement of livestock management practices to prevent and manage TBDs in Pakistan.
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Anaplasma marginale , Anaplasmose , Doenças dos Bovinos , Theileria annulata , Theileria , Theileriose , Carrapatos , Bovinos , Animais , Anaplasma marginale/genética , Theileria annulata/genética , Theileriose/epidemiologia , Paquistão/epidemiologia , Doenças dos Bovinos/microbiologia , Filogenia , Afeganistão , DNA de Protozoário/genética , Anaplasmose/microbiologia , Carrapatos/genética , Reação em Cadeia da Polimerase MultiplexRESUMO
Azoospermia is a significant cause of male infertility, with non-obstructive azoospermia (NOA) being the most severe type of spermatogenic failure. NOA is mostly caused by congenital factors, but our understanding of its genetic causes is very limited. Here, we identified a frameshift variant (c.201_202insAC, p.Tyr68Thrfs∗17) and two nonsense variants (c.1897C>T, p.Gln633∗; c.2005C>T, p.Gln669∗) in KCTD19 (potassium channel tetramerization domain containing 19) from two unrelated infertile Chinese men and a consanguineous Pakistani family with three infertile brothers. Testicular histological analyses revealed meiotic metaphase I (MMI) arrest in the affected individuals. Mice modeling KCTD19 variants recapitulated the same MMI arrest phenotype due to severe disrupted individualization of MMI chromosomes. Further analysis showed a complete loss of KCTD19 protein in both Kctd19 mutant mouse testes and affected individual testes. Collectively, our findings demonstrate the pathogenicity of the identified KCTD19 variants and highlight an essential role of KCTD19 in MMI chromosome individualization.
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BACKGROUNDS: Acne vulgaris is a chronic inflammatory skin disease of the pilosebaceous unit affecting most teenagers and numerous adults throughout the world. The present study was designed to assess the association of the presence or absence of GSTM1, GSTT1, and single nucleotide polymorphisms rs1695 in GSTP1 and rs1042522 in TP53 gene with acne vulgaris. METHODS: The cross-sectional case-control study was conducted at the Institute of Zoology from May 2020 to March 2021 and included acne vulgaris patients (N = 100) and controls (N = 100) enrolled in Dera Ghazi Khan district, Pakistan. Multiplex and tetra-primer amplification refractory mutation system-polymerase chain reactions were applied to investigate the genotype in analyzed genes. The association of rs1695 and rs1042522 with acne vulgaris was studied either individually or in various combinations with GATM1 and T1. RESULTS: A significant association of absence of GSTT1 and mutant genotype at rs1695 (GG) and at rs1042522 (CC) in GSTP1 and TP53, respectively, was found to be associated with acne vulgaris in enrolled subjects. Subjects aged 10-25 years and smokers were more susceptible to acne vulgaris. CONCLUSION: Our results suggest that genotypes of glutathione S-transferases (GSTs) and TP53 are involved in protection against oxidative stress and may influence disease progression in acne vulgaris.
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Acne Vulgar , Predisposição Genética para Doença , Adulto , Adolescente , Humanos , Incidência , Estudos de Casos e Controles , Estudos Transversais , Predisposição Genética para Doença/genética , Fatores de Risco , Glutationa Transferase/genética , Glutationa Transferase/metabolismo , Acne Vulgar/epidemiologia , Acne Vulgar/genética , Proteína Supressora de Tumor p53/genética , Glutationa S-Transferase pi/genéticaRESUMO
Background: Majority of Pakistani population lives in rural areas and raising animals, especially the small ruminants, is their primary source of income. Anaplasma ovis is known to infect small ruminants globally and causing significant economic losses to livestock owners, however prevalence of Anaplasma ovis has been least investigated from Pakistan despite having a huge sheep population. Methods: The present study was conducted from June 2021 till December 2021 to report the PCR based prevalence of Anaplasma ovis in the blood samples of sheep (n = 239) that were collected from District Dera Ghazi Khan in Pakistan. Results: Out of 239 samples, 30 (12.5%) amplified a 347 bp fragment specific for the msp4 gene of Anaplasma ovis. Represented partial msp4 gene sequences were confirmed by Sanger sequencing and deposited to GenBank (OP620757-59). None of the studied epidemiological factors (age, sex, breed, size of herd, dogs with herd, and composition of herd) showed an association (P > 0.05) with the Anaplasma ovis infection in enrolled sheep. Analysis of the amplified partial mSP4 sequence of Anaplasma ovis revealed that this gene is highly conserved as all three sequences were identical and phylogenetically resembled with the msp4 sequences amplified from small ruminants in China, Kenya, and Germany, Turkey, Portugal, Tunisia and India. In conclusion, for the first time, we are reporting a moderate prevalence of Anaplasma ovis prevalence in Pakistani sheep and this data will help in developing the integrated control policies against this newly reported tick-borne disease that is infecting our sheep breeds.
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The aim of this study was to report the genotype and allelic frequency at rs438228855 (G > T) in SLC35A3 receptor gene and its association with a complex vertebral malformation (CMV) in the enrolled Pakistani cattle. Our results indicated that allelic and genotype frequency at rs438228855 varied non-significantly (p > .05) among the three enrolled cattle breeds. GT (heterozygous) genotype was most abundant (0.54) followed by GG (wild type) genotype (0.45) while the mutant genotype (TT) was not observed among the enrolled cattle. It was observed that the Holstein Friesian breed had more GG (wild) than GT (heterozygous) genotypes while Sahiwal and cross cattle breed had more heterozygous (GT) combination at rs438228855 than the wild (GG) genotype. Significant variations in white blood cell count, % lymphocytes, red blood cell count, % monocytes, haemoglobin, mean corpuscular volume and mean corpuscular haemoglobin concentration were observed when compared between the enrolled cattle breeds. Most of the studied haematological parameters showed no association with the genotype at rs438228855. In conclusion, the heterozygosity at rs438228855 is not limited to the Holstein Friesian breed as local Sahiwal and crossbred cattle had also higher heterozygosity at rs438228855. We recommend that animals must be genotyped for rs438228855 before their selection as breeders to prevent economic losses.
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Genótipo , Bovinos/genética , Animais , Paquistão , Frequência do GeneRESUMO
The present study was designed to report the genotypic and allelic frequency of single nucleotide polymorphism (SNP) at 222 G > A in HSP70 and at ex6-7390T22G in the HSP90 gene of 204 sheep (Baluchi = 11, Kajli = 29, Latti = 06 and Mundri = 158) enrolled from District Rajanpur in Punjab and to report the susceptibility of these sheep to the blood-borne parasitic infection. The tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) approach revealed a significant variation (p < 0.001) in the genotype frequency of four enrolled sheep breeds at SNP 222 G > A in the HSP70 gene while the allelic frequency remained unaffected (p = 0.08). In all sheep breeds, GG (wild) genotype was most common. T-ARMS-PCR analysis revealed a similar trend for ex6-7390T22G in the HSP90 gene and it was observed that sheep had significantly higher wild-type (GG) (p < 0.05) at the studied SNPs. Studied epidemiological factors (sex and sampling sites) were not found associated with both SNPs. Chi-square test revealed that no specific genotype and allelic frequency at 222 G > A in HSP70 and at ex6-7390T22G in the HSP90 gene of the enrolled sheep breed was associated with the susceptibility to blood-borne parasitic infection (p > 0.05). In conclusion, we are reporting that Pakistan is blessed to have majority of sheep, from all breeds, having wild genotype at analyzed SNPs in heat stress genes. We highly recommend the genotypic screening of sheep before their selection as breeders to reduce the possibility of having sheep with polymorphic genotypes at 222 G > A in HSP70 and at 7390T22G in HSP90 genes that will improve the profitability and sustainability of animal production systems in Pakistan.
Assuntos
Doenças Parasitárias , Doenças dos Ovinos , Ovinos/genética , Animais , Polimorfismo de Nucleotídeo Único/genética , Paquistão , Frequência do Gene , Genótipo , Proteínas de Choque Térmico/genética , Doenças dos Ovinos/genéticaRESUMO
Multiple morphological abnormalities of the sperm flagella (MMAF) are the most severe form of asthenozoospermia due to impaired axoneme structure in sperm flagella. Dynein arms are necessary components of the sperm flagellar axoneme. In this study, we recruited 3 unrelated consanguineous Pakistani families with multiple MMAF-affected individuals, who had no overt ciliary symptoms. Whole-exome sequencing and Sanger sequencing identified 2 cilia and flagella associated protein 57 (CFAP57) loss-of-function mutations (c.2872C>T, p. R958*; and c.2737C>T, p. R913*) recessively segregating with male infertility. A mouse model mimicking the mutation (c.2872C>T) was generated and recapitulated the typical MMAF phenotype of CFAP57-mutated individuals. Both CFAP57 mutations caused loss of the long transcript-encoded CFAP57 protein in spermatozoa from MMAF-affected individuals or from the Cfap57-mutant mouse model while the short transcript was not affected. Subsequent examinations of the spermatozoa from Cfap57-mutant mice revealed that CFAP57 deficiency disrupted the inner dynein arm (IDA) assembly in sperm flagella and that single-headed IDAs were more likely to be affected. Thus, our study identified 2 pathogenic mutations in CFAP57 in MMAF-affected individuals and reported a conserved and pivotal role for the long transcript-encoded CFAP57 in IDAs' assembly and male fertility.
Assuntos
Cílios , Dineínas , Proteínas Associadas aos Microtúbulos , Animais , Humanos , Masculino , Camundongos , Cílios/metabolismo , Dineínas/genética , Dineínas/metabolismo , Flagelos , Sêmen/metabolismo , Proteínas Associadas aos Microtúbulos/genética , Mutação com Perda de FunçãoRESUMO
OBJECTIVE: Chronic periodontal disease (CP) is a multifactorial infectious and inflammatory disease that occurs due to the challenge between the immune response of the host and specific periodontal bacteria, and that can lead to tooth loss due to damage inflicted to the supporting tissue. The current study investigates the genotypes of the GSTM1 and GSTT1 genes, along with the allelic frequency of the single nucleotide polymorphism [SNP; rs1695] in the GSTP1 gene and correlates them individually or in various combinations with the incidence of CP. METHODS: A total of 203 clinically confirmed CP patients and 201 control subjects were enrolled from Multan and Dera Ghazi Khan Districts in Pakistan from April to July 2022. Multiplex Polymerase Chain Reaction (PCR) and tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) approaches were applied to determine the genotypes of the studied GSTs. The association of rs1695 in GSTP1 with CP was studied both individually and in various combinations with GSTM1 and T1. RESULTS: The absence of GSTM1, the presence of GSTT1 and the presence of the mutant allele (G) at rs1695 in GSTP1 were found to be significantly associated with CP. Patients aged between 10 and 30 years were more affected by CP. CONCLUSION: Our results indicate that the genotypes of the analyzed GSTs affect the levels of protection from oxidative stress and may therefore influence the disease progression in CP.