The effect of breed on Porcine Reproductive and Respiratory Syndrome Viremia (PRRSV) was tested u... more The effect of breed on Porcine Reproductive and Respiratory Syndrome Viremia (PRRSV) was tested using data collected in 17 Italian commercial pig farms and 1096 genotypes obtained by the PorcineSNP60 BeadChip. A binomial logistic model was used to investigate the relationship between breed-clusters and PRRSV susceptibility. Breed-clusters were defined using the matrix of genomic kinship between all pairs of piglets. Only the contemporary group effect, defined as all piglets reared in the same herd, in the same year and whose samples were collected in the same season, was significant. Sex, age and breed-cluster showed no statistically significant effect on PRRS viremia, although the Landrace and Cross breed-clusters showed the lowest Odds-Ratio The model failed to detect a significant breed-cluster effect, highlighting the impact of environment and management on PRRS viremia incidence. Incomplete exposure over the observed period may have masked possible breed differences.
Targeting antigens to professional antigen presenting cells resident at the sites where effective... more Targeting antigens to professional antigen presenting cells resident at the sites where effective immune responses are generated is a promising vaccination strategy. As such, targeting sialoadhesin (Sn)-expressing macrophages, abundantly present in spleen and lymph nodes where they appear to be strategically placed for antigen capture and processing, is recently gaining increased attention. Previously, we have shown that humoral immune responses to the model antigen human serum albumin can be enhanced by using a porcine Sn-specific monoclonal antibody to target the model antigen to Sn-expressing macrophages. To date however, no studies have been performed to evaluate whether targeted delivery of a pathogen-derived antigen can enhance the pathogen-specific immune response. Therefore, we selected a linear epitope on glycoprotein 4 of porcine reproductive and respiratory syndrome virus (PRRSV), which is known to be a target of virus-neutralizing antibodies. This paper reports on the ta...
Porcine reproductive and respiratory syndrome (PRRS) is a highly infectious viral disease causing... more Porcine reproductive and respiratory syndrome (PRRS) is a highly infectious viral disease causing severe losses to the pig industry. Most weaning piglets are likely to be exposed to the infection and show at least asymptomatic PRRS viremia strongly related to productive performance. The aims of this study were to set up experimental conditions for pig sera proteomic profiling and to identify biomarkers that differentiate weaning asymptomatic piglets positive to PRRS viremia from negative controls (PCR tested) with potential predictive value for the subsequent occurrence of clinical PRRS. Protein profiles were generated by SELDI-TOF MS using the Bio-Rad Chips WCX, IMAC30 and H50. The discovery phase revealed that a consistent number of highly significant protein peaks can be detected by the WCX and IMAC30 surfaces; however none of these peaks were statistically confirmed by the subsequent validation phase, highlighting that serum concentration of the contaminant and most abundant proteins is a crucial parameterfor SELDI-TOF MS studies. Current protocols are being furtheroptimized and adapted to pig sera to reduce the unfavourable effects of the most abundant proteins and to increase the number of potential detectable biomarkers. Furthermore, proteomic fingerprint profiling has been shown to be a promising diagnostic tool that, in the future, may be useful to provide also insights into the mechanisms of early viral infection in vivo.
Hereditary neuropathy with liability to pressure palsies (HNPP) is commonly associated with a 1.5... more Hereditary neuropathy with liability to pressure palsies (HNPP) is commonly associated with a 1.5-megabase deletion on chromosome 17p11.2-12. We analyzed the phenotypic expression of the deletion in 39 HNPP patients from 16 families carrying the deletion. Two-thirds of the individuals had episodes of acute mononeuropathy, often involving nerve territories of the upper limbs or brachial plexus; however, 41% of affected subjects were unaware of their disease, and 25% were almost or totally free of symptoms; one-third complained of chronic symptoms and four older patients had a picture of polyneuropathy. Electrophysiologic abnormalities differed among affected subjects, ranging from conduction abnormalities localized at common entrapment sites to diffuse conduction slowing, usually more evident at entrapment sites; patients from one family had preeminent proximal involvement. The spectrum of phenotypic expression of deletion-associated HNPP appears to be broader than previously thought. The prevalence of the disease is probably underestimated, and the availability of molecular diagnosis should increase disease detection.
Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (E... more Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
Journal of Receptors and Signal Transduction, 2008
Sialoadhesin (Sn) is the prototypic member of the Siglecs, a family of receptors mainly involved ... more Sialoadhesin (Sn) is the prototypic member of the Siglecs, a family of receptors mainly involved in cell-cell interactions. For several Siglecs, but not for Sn, intracellular signaling functions have been described. Because antibody-mediated cross-linking of surface transmembrane proteins is a powerful technique to investigate cell-molecular events, Sn expressed on porcine alveolar macrophages (PAM) was cross-linked with the antibody 41D3, and the expression profiles were compared with mock-treated macrophages by microarray analysis. Gene ontology analysis of 479 differentially expressed transcripts identified gene categories related to membrane localization, signal transduction, receptor and communication activities. Analyses of the human KEGG pathway database identified MAP kinase signaling, regulation of actin cytoskeleton, adipocytokine signaling, and wnt signaling as significantly altered pathways, supporting a role for Sn as intracellular signaling molecule. Real-time PCR of a subset of modulated genes confirmed these results and highlighted the reliability of a short-term cross-linking treatment for transcriptomic analysis of receptor functions.
The Italian Journal of Neurological Sciences, 1995
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-link... more Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.
The effect of breed on Porcine Reproductive and Respiratory Syndrome Viremia (PRRSV) was tested u... more The effect of breed on Porcine Reproductive and Respiratory Syndrome Viremia (PRRSV) was tested using data collected in 17 Italian commercial pig farms and 1096 genotypes obtained by the PorcineSNP60 BeadChip. A binomial logistic model was used to investigate the relationship between breed-clusters and PRRSV susceptibility. Breed-clusters were defined using the matrix of genomic kinship between all pairs of piglets. Only the contemporary group effect, defined as all piglets reared in the same herd, in the same year and whose samples were collected in the same season, was significant. Sex, age and breed-cluster showed no statistically significant effect on PRRS viremia, although the Landrace and Cross breed-clusters showed the lowest Odds-Ratio The model failed to detect a significant breed-cluster effect, highlighting the impact of environment and management on PRRS viremia incidence. Incomplete exposure over the observed period may have masked possible breed differences.
Targeting antigens to professional antigen presenting cells resident at the sites where effective... more Targeting antigens to professional antigen presenting cells resident at the sites where effective immune responses are generated is a promising vaccination strategy. As such, targeting sialoadhesin (Sn)-expressing macrophages, abundantly present in spleen and lymph nodes where they appear to be strategically placed for antigen capture and processing, is recently gaining increased attention. Previously, we have shown that humoral immune responses to the model antigen human serum albumin can be enhanced by using a porcine Sn-specific monoclonal antibody to target the model antigen to Sn-expressing macrophages. To date however, no studies have been performed to evaluate whether targeted delivery of a pathogen-derived antigen can enhance the pathogen-specific immune response. Therefore, we selected a linear epitope on glycoprotein 4 of porcine reproductive and respiratory syndrome virus (PRRSV), which is known to be a target of virus-neutralizing antibodies. This paper reports on the ta...
Porcine reproductive and respiratory syndrome (PRRS) is a highly infectious viral disease causing... more Porcine reproductive and respiratory syndrome (PRRS) is a highly infectious viral disease causing severe losses to the pig industry. Most weaning piglets are likely to be exposed to the infection and show at least asymptomatic PRRS viremia strongly related to productive performance. The aims of this study were to set up experimental conditions for pig sera proteomic profiling and to identify biomarkers that differentiate weaning asymptomatic piglets positive to PRRS viremia from negative controls (PCR tested) with potential predictive value for the subsequent occurrence of clinical PRRS. Protein profiles were generated by SELDI-TOF MS using the Bio-Rad Chips WCX, IMAC30 and H50. The discovery phase revealed that a consistent number of highly significant protein peaks can be detected by the WCX and IMAC30 surfaces; however none of these peaks were statistically confirmed by the subsequent validation phase, highlighting that serum concentration of the contaminant and most abundant proteins is a crucial parameterfor SELDI-TOF MS studies. Current protocols are being furtheroptimized and adapted to pig sera to reduce the unfavourable effects of the most abundant proteins and to increase the number of potential detectable biomarkers. Furthermore, proteomic fingerprint profiling has been shown to be a promising diagnostic tool that, in the future, may be useful to provide also insights into the mechanisms of early viral infection in vivo.
Hereditary neuropathy with liability to pressure palsies (HNPP) is commonly associated with a 1.5... more Hereditary neuropathy with liability to pressure palsies (HNPP) is commonly associated with a 1.5-megabase deletion on chromosome 17p11.2-12. We analyzed the phenotypic expression of the deletion in 39 HNPP patients from 16 families carrying the deletion. Two-thirds of the individuals had episodes of acute mononeuropathy, often involving nerve territories of the upper limbs or brachial plexus; however, 41% of affected subjects were unaware of their disease, and 25% were almost or totally free of symptoms; one-third complained of chronic symptoms and four older patients had a picture of polyneuropathy. Electrophysiologic abnormalities differed among affected subjects, ranging from conduction abnormalities localized at common entrapment sites to diffuse conduction slowing, usually more evident at entrapment sites; patients from one family had preeminent proximal involvement. The spectrum of phenotypic expression of deletion-associated HNPP appears to be broader than previously thought. The prevalence of the disease is probably underestimated, and the availability of molecular diagnosis should increase disease detection.
Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (E... more Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
Journal of Receptors and Signal Transduction, 2008
Sialoadhesin (Sn) is the prototypic member of the Siglecs, a family of receptors mainly involved ... more Sialoadhesin (Sn) is the prototypic member of the Siglecs, a family of receptors mainly involved in cell-cell interactions. For several Siglecs, but not for Sn, intracellular signaling functions have been described. Because antibody-mediated cross-linking of surface transmembrane proteins is a powerful technique to investigate cell-molecular events, Sn expressed on porcine alveolar macrophages (PAM) was cross-linked with the antibody 41D3, and the expression profiles were compared with mock-treated macrophages by microarray analysis. Gene ontology analysis of 479 differentially expressed transcripts identified gene categories related to membrane localization, signal transduction, receptor and communication activities. Analyses of the human KEGG pathway database identified MAP kinase signaling, regulation of actin cytoskeleton, adipocytokine signaling, and wnt signaling as significantly altered pathways, supporting a role for Sn as intracellular signaling molecule. Real-time PCR of a subset of modulated genes confirmed these results and highlighted the reliability of a short-term cross-linking treatment for transcriptomic analysis of receptor functions.
The Italian Journal of Neurological Sciences, 1995
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-link... more Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.
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Papers by Sara Botti