Search Results (130)

X-linked dystrophin-deficient muscular dystrophy (DD-MD) is an uncommon neuromuscular disorder in cats. We described an adult male cat with chronic tongue protrusion, dysphagia, muscle hypertrophy, and a history of rhabdomyolysis associated with anesthesia. Clinical pathology revealed markedly increased CK activity, muscle histopathology demonstrated a dystrophic phenotype, and an absence of dystrophin protein was confirmed by immunofluorescent staining. Whole genome sequencing identified two potential disease-causing variants, including a new missense variant in the DMD gene (c.2207T>C; p.Gln736Arg), which was considered causative of the clinical phenotype. A second variant in the CLIC2 gene was also detected but was considered unlikely to cause myopathic signs. The clinical course remained stable over 1.5 years with supportive management and dietary modification, and no further episodes of rhabdomyolysis occurred. This case expands the known spectrum of feline DMD variants and highlights the value of genetic testing combined with muscle histopathology for diagnosing chronic presentations of MD. Avoidance of inhalant anesthetics may be important in managing affected cats due to the risk of acute muscle injury. Full article

Feline calicivirus (FCV) is a major pathogen that threatens feline health worldwide. Its global prevalence, extensive genetic variability, and limited cross-protection among strains present significant challenges for vaccine development. In this study, an infectious clone of the FCV-GDJM202201 strain was constructed using the eukaryotic expression plasmid pcDNA3.1 under the control of the cytomegalovirus (CMV) promoter. The rescued virus, rGDJM-A4822T, exhibited growth kinetics comparable to those of the parental strain in vitro. Subsequently, two recombinant viruses, rGDJM-VP1_JL and rGDJM-VP1_SH, were generated by replacing the VP1 gene in the GDJM202201 backbone with those from heterologous FCV strains. Notably, these recombinant viruses exhibited reduced viral titers compared to rGDJM-A4822T. Finally, neutralization assays revealed differential neutralizing antibody titers among the recombinant FCVs, with rGDJM-A4822T inducing higher neutralizing antibody titers and cross-neutralizing activity. Collectively, this study establishes an FCV infectious clone that can be used to rescue recombinant viruses carrying heterologous VP1 proteins and to evaluate neutralizing antibody responses. Full article

At least seven species of wild cats inhabit Colombia, and these species are also distributed throughout Mexico, Central America, and the rest of South America (jaguar, puma, jaguarundi, ocelot, margay, tigrina, and Pampas cat). A checklist and review of phylogeographic and population genetic studies on these seven wild cat species has been conducted here, as this information is vital for effective conservation programs. The jaguar is the feline species on which the most population genetic studies have been carried out in the Neotropics. In general, little genetic structure has been found at a macro-geographic scale. Genetic diversity is high in countries such as Colombia, Peru, and Bolivia, and generally throughout the Amazon basin. However, genetic diversity is more moderate or even significantly lower in Mexico and the Brazilian Atlantic Forest. Much of the genetic research on the jaguar has focused on Brazil, Mexico, and Belize, but Colombia is also very well represented in these studies. However, there is a complete or very pronounced lack of data in other areas such as Venezuela, the Guianas, some Central American countries, Paraguay, and northern Argentina. After the jaguar, the most studied feline in Neotropics from a population genetics perspective is the puma. In North America, this species has low genetic diversity, while the diversity in Central America is moderate, and South America is where genetic diversity is highest. The countries best represented in these studies are Brazil (southern of the country), Mexico, Belize, and Argentina. However, countries like Colombia, Ecuador, Peru, and Paraguay are very poorly represented in puma genetic studies. Very few genetic studies have been conducted on the jaguarundi, despite its vast geographic distribution. In northern Mexico, its genetic diversity is very low, but in countries like Colombia, Peru, and Bolivia, genetic diversity is very high. Colombia is probably the country where jaguarundis have been genetically studied most extensively. The third wild cat species with the most molecular studies in Neotropics is the ocelot, although it lags considerably behind jaguars and pumas. Its genetic diversity is low in Texas and northern Mexico, but very high, especially in countries surrounding the Amazon basin. A good number of macro-geographic studies have been conducted on the ocelot, and these studies are very representative of ocelots in countries such as Colombia (probably the best represented country), Ecuador, Peru, Bolivia, Panama, and Costa Rica. However, there are other countries where molecular studies of the ocelot have not been carried out, such as Paraguay and Argentina, with the lack of such studies in Brazil being particularly noteworthy. Very few molecular studies have been conducted on the margay. In general, its genetic diversity is very high in all the studies performed. Colombia, Peru and Bolivia are very well represented, but the lack of molecular studies in Mexico, much of Central America, and South American countries such as Brazil, Paraguay, and Argentina is striking. The tigrina is one of the Neotropical wild cat species that requires the most molecular studies to unravel its complex systematics. Only the southern Brazilian tigrina (Leopardus guttulus), which was elevated to a new species, has generated comprehensive molecular information. Molecular studies of the Andean tigrina have revealed a very complex picture that, at present, does not allow us to know exactly how many species or taxa inhabit that area of South America and, therefore, to develop a conservation program that adequately correlates with that number of taxa. Finally, in the case of the Pampas cat, molecular studies are well represented with specimens from Peru, Bolivia, Chile, Argentina, Brazil and Uruguay. Studies are needed in Paraguay, and especially in Ecuador and southern Colombia (assuming a stable population of Pampas cats exists in the latter country), where even at the molecular level, the specific taxon (one species or five species) present has not yet been determined. All this information is essential for developing effective regional and global conservation programs for these magnificent creatures. In Colombia, the development of molecular studies with the puma, the tigrina, and the Pampas cat is of special interest. Full article

Background/Objectives: Human induced pluripotent stem cell (hiPSC) models provide a unique platform for testing the effect of genomic variants identified in patients with inherited diseases. In Alström syndrome, a rare multisystem disorder mainly caused by nonsense mutations in the ALMS1 gene, patients often present with infantile cardiomyopathy, retinal dystrophy, type 2 diabetes, and hearing loss in addition to obesity. These diverse clinical manifestations highlight the pleiotropic functions of ALMS1 in cellular processes such as ciliary signalling, cell cycle regulation, and tissue homeostasis. In cats, the ALMS1:c.7384G>C missense variant has been associated with cardiomyopathy in the absence of other symptoms of Alström syndrome, raising questions regarding the impact of this variant on cardiac pathology. Methods: To answer these questions, we generated an hiPSC line carrying the human ALMS1:c.10004G>C missense variant, homologous to the ALMS1:c.7384G>C feline variant, as well as an isogenic control, to investigate the impact of this variant on cardiomyocyte differentiation and function. Results: The introduction of the ALMS1:c.10004G>C variant in the homozygous state in hiPSCs resulted in a significant reduction in cardiomyocyte differentiation efficiency. However, the variant did not affect contractile frequency, sarcomere organisation, sarcomere length, or cardiomyocyte cell size. Together, these results suggest that while the ALMS1:c.10004G>C variant impairs cardiomyocyte differentiation, it does not disrupt the structural or functional properties of the hiPSC-derived cardiomyocytes that do form. Conclusions: We have generated and initiated the characterisation of the third ALMS1 mutant hiPSC line and the first line based on a missense variant, but further research is needed on its relevance in modelling ALMS1-related changes. Our results also support the previous recommendation not to use ALMS1:c.7384G>C for the selection of breeding cats until further data confirm its intrinsic pathogenicity. Full article

Siberian cats are characterized by a high level of genetic variability, which is also reflected in a wide range of colour variations. Knowledge about the genetic background of these coat colour varieties is fragmented and predominantly derived from research on other breeds, with inconsistencies in nomenclature across major feline organizations. This review aims to offer a comprehensive synthesis of the genetic mechanisms underlying coat colour and pattern variation in Siberian cats, while also critically examining how these phenotypes are defined, named, and recognized across key international feline breed registries. In Siberian cats, as in other breeds, the fundamental factor in the development of a phenotype is the interaction of multiple genes involved in the production of various types of melanin, its quantity, and distribution in the skin and coat. An analysis of breed standards revealed inaccuracies in the naming of several traits and differences in the acceptance of certain phenotypes within the breed, most notably concerning basic colours, ticked patterns, colourpoint recognition, silver and golden variants, as well as definitions of white spotting categories. The Siberian cat exhibits complex and partially breed-specific genetic determinants of coat colouration. Unification of nomenclature among feline federations would improve clarity in breeding practice and genetic documentation. Some of the traits still require molecular research into their genetic background, making the breed interesting not only to cat lovers but also to researchers. Full article

Protoparvoviruses are highly contagious pathogens that cause severe, often fatal diseases in both domestic and wild carnivores. Golden jackal (Canis aureus) populations have experienced expansion in recent years, increasingly occupying urban and peri-urban areas. Despite this, they remain largely overlooked in scientific research. This study aimed to detect and characterise Protoparvovirus carnivoran1 circulating in a golden jackal population in Croatia and to assess their role in the epidemiology of parvovirus infections in companion animals. Small intestines from 55 jackals hunted in 2024 and 2025 were tested for Protoparvovirus carnivoran1 using real-time PCR. Positive samples were found across all sampling sites, with an overall positivity rate of 40%. Based on characteristic amino acid residues within the VP2 protein, the viruses detected in jackals were classified as feline panleukopenia virus (FPV). Phylogenetic analysis of the VP2 protein demonstrated considerable genetic diversity among strains circulating in Croatia. Additionally, a distinct group was identified, shared exclusively by Croatian domestic cats and golden jackals. Amino acid analysis revealed the novel A91T mutation, found only in jackals, and the E411Q mutation, unique to Croatian FPV strains. Structural modelling of the VP2 protein indicates that the observed mutations are located on the protein surface, within the antibody-binding site. These findings highlight the potential role of wild carnivores in parvovirus epidemiology and underscore the importance of including them in future surveillance and research efforts. Full article

Interspecies variability in diabetes mellitus (DM) represents a critical challenge for translational medicine, as metabolic pathways, pancreatic architecture, and therapeutic responses differ substantially across animal models. This systematic review, conducted according to PRISMA 2020 guidelines, synthesized evidence from 86 eligible studies published between 2001 and 2025. Comparative data from rodents, dogs, cats, pigs, non-human primates, and humans were analyzed to identify species-specific patterns in insulin secretion, insulin resistance (IR), β-cell dysfunction, microbiota–metabolism interactions, and susceptibility to diabetic complications. Results indicate that spontaneous diabetes in dogs closely mirrors human type 1 diabetes (T1DM), whereas feline obesity-associated diabetes reflects key features of human type 2 diabetes (T2DM). Rodent models remain essential for mechanistic and genetic studies but show limited chronicity and lower predictive fidelity for long-term outcomes. Non-human primates exhibit the highest physiological similarity to humans, especially regarding β-cell structure and incretin response, supporting their role in advanced translational studies. Major limitations included methodological heterogeneity and inconsistent molecular reporting. Integrating spontaneous models with standardized protocols and multi-omics approaches enhances translational relevance and supports more accurate model selection in diabetes research. Full article

Chronic Kidney Disease (CKD) is among the most frequent and clinically relevant metabolic disorders in cats, affecting a substantial proportion of the adult and geriatric feline population. The prevalence of CKD increases with age, being estimated at 20–50% in cats over 10 years of age. The etiology of this disorder involves genetic predisposition, dietary factors, as well as exposure to toxins or concomitant diseases that may accelerate the progression of renal lesions. The present study synthesizes data from the scientific literature together with clinical-epidemiological analyses performed on a cohort of 120 cats over a four-year period. The results highlighted an overall prevalence of CKD in the studied cohort, with a significantly higher frequency in cats over nine years of age, particularly affecting purebred animals. A slightly higher prevalence was observed in males compared to females, while reproductive status indicated an increased risk of CKD in neutered patients. Living environment and nutritional status were also influential, with a higher disease prevalence in indoor-only cats and in those fed nutritionally deficient diets. The multifactorial nature of CKD pathogenesis, combined with the nonspecific clinical manifestations in its early stages, explains the frequent late diagnosis of most cases. Consequently, an in-depth understanding of the epidemiology and associated risk factors constitutes an essential prerequisite for the development of preventive strategies, early screening protocols, and personalized therapeutic management aimed at optimizing quality of life and longevity in feline patients. Full article

Feline calicivirus (FCV) is widespread in multi-cat environments and typically causes acute upper respiratory tract disease (URTD). FCV also causes outbreaks of virulent systemic disease (VSD), mainly in adults, with multiple organ involvement. In this study, an FCV-VSD infection was described in a less-one-month-old Maine Coon kitten originating from a cattery where an outbreak of FCV-URTD had previously been reported. After spontaneous death, post-mortem examination as well as histopathological, immunohistochemical, bacteriological and virological investigations were carried out. Pathological findings were consistent with severe pneumonia and cutaneous oedema of the footpads. No concomitant bacterial infection was detected. FCV RNA was detected in several organs and the highest amount of viral RNA was observed in the lung sample, in which the presence of the FCV antigen was confirmed by immunohistochemistry. With the same immunohistochemical technique, the IBA-1 antibody detected sparse alveolar macrophages, the main viral target cell and pulmonary replication site. The nucleotide sequences of the viral ORF2 gene amplified from all positive tissues were identical with each other and phylogeny confirms that highly virulent FCV strains are not distinguishable from FCV-URTD phenotypes. Our findings reinforce the hypothesis that VSD outbreaks can occur even in small populations, due to the high genetic variability of FCV. Full article

The porcine origin rotavirus A (RVA) G5 genotype is notable for its unique and sustained human circulation in Brazil, primarily as G5P[8] during the 1980s–2000s. This study aimed to characterize and investigate the full genome of a rare G5P[6] strain detected in 2013 (RVA/Human-wt/BRA/IAL-R406/2013/G5P[6]) to elucidate its evolutionary origin throughout RT-PCR, sequencing, and phylogenetic analysis. Whole-genome assessment revealed an atypical G5-P[6]-I1-R1-C1-M1-A8-N1-T7-E1-H1 constellation. The IAL-R406 VP7 (classified in Lineage I) was closely related to G5 strains that have circulated in both humans and pigs in Brazil for nearly three decades, showing no evidence of recent variant introduction. The VP4 P[6] (assigned as Lineage I) was genetically similar to Paraguayan and Argentinian G4P[6] porcine-like strains, indicating a regional swine reservoir and zoonotic RVA spillover in South America. The remaining nine segments support the animal–human reassortant origin of IAL-R406, showing broad similarity to porcine-like human and porcine strains described worldwide, with additional relationships to bovine (Republic of Korea, USA), feline-like human (Brazil), equine (UK), simian (Caribbean), wild boar/fox (Croatia), and classical human (Japan, USA) strains. In particular, the NSP1-A8 and NSP3-T7 genotypes, extremely rare in humans yet widespread in animals, especially swine, strongly indicate interspecies reassortment, likely resulting from porcine-to-human transmission. Together, these findings reinforce swine as a persistent reservoir for zoonotic RVA infections and highlight the importance of a One Health approach integrating human and animal surveillance to better understand RVA cross-species transmission and evolution. Full article

Members of the Anelloviridae family are increasingly being recognized for their role in veterinary and public health, with domestic cats identified as potential carriers of anelloviruses and gyroviruses. This study aimed to investigate the prevalence and genetic characteristics of these viruses in diarrheic cats from Sivas, Türkiye. A total of 91 fecal samples were analysed, initially for feline panleukopenia virus using conventional PCR, followed by screening with our Anelloviridae panel. The results revealed that 19 (20.9%) samples were positive for TTFeV1, 32 (35.2%) for CAV, 67 (73.6%) for Avian gyrovirus 2, four (4.4%) for Gyrovirus 3, and three (3.3%) for Gyrovirus 4. Statistical analyses revealed frequent co-infections among parvoviruses, anelloviruses, and gyroviruses, with a significant association between Gyrovirus chickenanemia (CAV) and Gyrovirus galga1 (AvGyV2). Notably, Gyrovirus 4 (Gyrovirus homsa3) was identified in feline stool for the first time. Phylogenetic and genomic analyses, based on partial TATA box-ORF2 sequences for anelloviruses and VP1 sequences for gyroviruses, provided further insights into viral diversity. These findings expand current knowledge of anellovirus and gyrovirus circulation in feline populations, underscoring the importance of continued surveillance for feline and public health. Full article

Feline lymphoma, a common neoplasm in cats, presents across diverse anatomical sites and is influenced by genetic, immune, environmental, and viral factors. This 15-year retrospective study analyzed feline lymphoma cases from the University of Zagreb’s Department of Veterinary Pathology, focusing on epidemiology, anatomical distribution, and immunophenotype. A bimodal age distribution was observed, with peaks at 2–3 and 10–12 years, and breed predispositions were noted in British and European Shorthairs after adjusting for referral frequency. Multicentric lymphoma was the most frequent type observed, followed by alimentary and mediastinal forms. Mediastinal lymphoma predominated in younger cats, whereas alimentary lymphoma was more common in older individuals. Male cats were overrepresented among renal lymphoma cases. Feline leukemia virus/feline immunodeficiency virus (FeLV/FIV) infection showed a strong correlation with mediastinal lymphoma. Overall, B-cell lymphomas were predominant; however, T-cell types were more frequently observed in European Shorthairs. In our study, mediastinal forms were uniformly T-cell, while alimentary and multicentric lymphomas were predominantly B-cell. Temporal trends showed surges in 2016–2017 and 2022–2023, and a decline during the COVID-19 pandemic. These findings highlight the complexity of feline lymphoma and underscore the need for tailored diagnostic and therapeutic strategies. Full article

Group A rotavirus (RVA) is a leading causative agent of diarrhea in both young animals and humans. In China, multiple genotypes are commonly found within the bovine population. In this study, we investigated 1917 fecal samples from calves with diarrhea between 2022 and 2025, with 695 testing positive for RVA, yielding an overall detection rate of 36.25%. The highest positivity rate was observed in Hohhot (38.98%), and annual detection rates ranged from 26.75% in 2022 to 42.22% in 2025. A bovine rotavirus (BRV) strain, designated 0205HG, was successfully isolated from a fecal sample of a newborn calf. Its presence was confirmed through cytopathic effects (CPEs), the indirect immunofluorescence assay (IFA), electron microscopy (EM), and high-throughput sequencing. Genomic characterization identified the strain as having the G6-P[1]-I2-R2-C2-M2-A3-N2-T6-E2-H3 genotype constellation. The structural proteins VP2 and VP7, along with nonstructural genes NSP1–NSP4, shared high sequence identity with Chinese bovine strains, whereas VP1, VP4, and NSP5 clustered more closely with human rotaviruses, and VP3 was related to feline strains. These findings highlight the genetic diversity and interspecies reassortment of BRVs in China, underlining the importance of continued surveillance and evolutionary analysis. Full article

Background/Objectives: Glycogen storage disease type II, also known as Pompe disease (PD), is a rare autosomal recessive genetic disorder triggered by a deficiency in lysosomal acid α-glucosidase (GAA). Recently, we discovered two deleterious missense variants of the GAA gene, c.1799G>A (p.Arg600His) (a pathogenic mutation) and c.55G>A (p.Val19Met), in a domestic short-haired cat with PD. This study aimed to design genotyping assays for these two variants and ascertain their allele frequencies in Japanese cat populations. Methods: We developed fluorescent probe-based real-time polymerase chain reaction assays to genotype the c.1799G>A and c.55G>A variants. A total of 738 cats, comprising 99 purebred cats from 20 breeds and 540 mixed-breed cats, were screened using these assays. Results: Genotyping assays clearly differentiated all known genotypes of the two variants. None of the 738 cats tested carried the c.1799G>A variant. However, we identified cats with c.55G/A and c.55A/A genotypes in the purebred (A allele frequency: 0.081) and mixed-breed cats (0.473). A significant difference (p < 0.001) was observed in the A allele frequency between the two groups. Conclusions: The c.1799G>A mutation appears rare in cat populations, suggesting it may be confined to specific pedigree Japanese mixed-breed cats. The c.55G>A variant was detected in purebred and mixed-breed cats, suggesting that it may not be directly linked to feline PD. However, additional studies are required to elucidate the precise relationship between this variant and cardiac function. Genotyping assays will serve as valuable tools for diagnosing and genotyping feline PD. Full article

The Tsushima leopard cat (Prionailurus bengalensis euptilurus), an endangered feline endemic to Tsushima Island, Japan, faces critical threats due to its small and isolated population. Understanding its demographic history and genetic differentiation from continental populations is essential for conservation planning. In this study, we performed whole-genome sequencing of four Tsushima individuals and applied demographic inference methods, including pairwise sequentially Markovian coalescent (PSMC) and Sequentially Markovian Coalescent (SMC++), to reconstruct the historical effective population size (Ne) and estimate divergence times. PSMC revealed a population expansion between 200,000 and 100,000 years ago, followed by a long-term decline. SMC++ inferred a continuous decline and estimated that the divergence from the Korean leopard cat population occurred approximately 30,000–20,000 years ago. Genetic diversity analysis showed that the Tsushima population has significantly lower heterozygosity and higher inbreeding levels than continental populations. Genetic clustering based on genome-wide SNPs indicated that the Tsushima population is genetically closest to the Korean population, forming a northern cluster distinct from southern populations, such as Borneo and the Malay Peninsula. These findings provide valuable insights into the evolutionary history and genetic status of the Tsushima leopard cat and contribute critical data for the design of future conservation strategies targeting this unique insular lineage. Full article