RESUMO
OBJECTIVES: The aim of this study was to examine the extent to which infliximab (IFX) serum levels impact disease activity in rheumatoid arthritis (RA) patients. METHODS: In this cross sectional study, serum samples were taken prior to drug infusion from 60 RA patients who had been undergoing IFX therapy > 12 months as a first line of biological treatment. Patient IFX levels were tested and then associated with clinical disease activity. Three DAS28 cut-off points, <2.6, <3.2 and <5.1 were used to determine whether detectable IFX levels were any predictor of clinical disease activity. Logistic regression analysis was run to check other possible factors associated with RA clinical outcomes such as MTX concomitant use, CRP and ESR. RESULTS: Sixteen (27%) out of the 60 patients tested negative; 28 (46%) presented subtherapeutic and 16 (27%) therapeutic IFX levels. Median IFX levels were higher in patients either in remission or showing low disease activity than in those with moderate and high disease activity (p=0.014). Significant association was found between IFX levels and clinical disease activity (p=0.001). Detectable levels of IFX shows better sensitivity and specificity to identify patients with DAS28<3.2 than to identify patients with DAS28<2.6 or DAS28<5.1. Conversely, the best DAS28 cut-off to identify detectable/undetectable IFX was 3.19, with AUC under ROC curve 0.804 (Sd.E 0.070), 76% specificity and 83% sensitivity (p<0.001). MTX use, CRP and ESR did not interfere with this association. Seven out of the 8 patients with anti-IFX antibodies presented DAS28>3.2 (p=0.005). CONCLUSIONS: DAS28 and IFX serum levels were shown to have an inverse correlation. Undetectable IFX serum levels were associated to RA patients presenting DAS28>3.2 meaning that DAS28 <3.2 may be useful to clinicians to evaluate patient response to drug therapy.
Assuntos
Artrite Reumatoide , Infliximab , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Idoso , Anticorpos/sangue , Antirreumáticos/imunologia , Antirreumáticos/farmacocinética , Área Sob a Curva , Artrite Reumatoide/sangue , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/fisiopatologia , Disponibilidade Biológica , Sedimentação Sanguínea , Estudos Transversais , Feminino , Humanos , Infliximab/imunologia , Infliximab/farmacocinética , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Curva ROC , Índice de Gravidade de Doença , Espanha , Estatística como Assunto , Resultado do TratamentoRESUMO
Crosses between the two North American rodent species Peromyscus polionotus (PO) and Peromyscus maniculatus (BW) yield parent-of-origin effects on both embryonic and placental growth. The two species are approximately the same size, but a female BW crossed with a male PO produces offspring that are smaller than either parent. In the reciprocal cross, the offspring are oversized and typically die before birth. Rare survivors are exclusively female, consistent with Haldane's rule, which states that in instances of hybrid sterility or inviability, the heterogametic sex tends to be more severely affected. To understand these sex- and parent-of-origin-specific patterns of overgrowth, we analysed reciprocal backcrosses. Our studies reveal that hybrid inviability is partially due to a maternally expressed X-linked PO locus and an imprinted paternally expressed autosomal BW locus. In addition, the hybrids display skewing of X-chromosome inactivation in favour of the expression of the BW X chromosome. The most severe overgrowth is accompanied by widespread relaxation of imprinting of mostly paternally expressed genes. Both genetic and epigenetic mechanisms underlie hybrid inviability in Peromyscus and hence have a role in the establishment and maintenance of reproductive isolation barriers in mammals.
Assuntos
Desenvolvimento Embrionário e Fetal/genética , Disgenesia Gonadal/genética , Hibridização Genética/genética , Peromyscus/embriologia , Peromyscus/genética , Animais , Cruzamentos Genéticos , Feminino , Viabilidade Fetal/genética , Gametogênese/genética , Masculino , Peromyscus/crescimento & desenvolvimento , Fatores SexuaisRESUMO
Alkaliphilus metalliredigens strain QYMF is an anaerobic, alkaliphilic, and metal-reducing bacterium associated with phylum Firmicutes QYMF was isolated from alkaline borax leachate ponds. The genome sequence will help elucidate the role of metal-reducing microorganisms under alkaline environments, a capability that is not commonly observed in metal respiring-microorganisms.
RESUMO
We report the genome sequence of Anaeromyxobacter sp. Fw109-5, isolated from nitrate- and uranium-contaminated subsurface sediment of the Oak Ridge Integrated Field-Scale Subsurface Research Challenge (IFC) site, Oak Ridge Reservation, TN. The bacterium's genome sequence will elucidate its physiological potential in subsurface sediments undergoing in situ uranium bioremediation and natural attenuation.
RESUMO
Regressive phenomena are common during the development of the nervous tissue. Among them, naturally occurring cell death has been observed in several regions of the nervous system. Cell death in the somatosensory cortex and medial cortical regions (hind limb, frontal cortex 1, frontal cortex 2, retrosplenial agranular, retrosplenial granular [Zilles K. et al. (1980) Anat. Embryol. 159, 335-360]) as well as in the cortical subplate (future subcortical white matter) in the rat mainly occurs during the first 10 days of postnatal life with peak values of 3.1 dead cells per 1000 live neurons at the end of the first week. Cell death progresses from birth to day 7 with a predominance of dead cells in the subplate and in layers II-III. Later, dead cells are more dispersed in the cerebral cortex, but a significant amount is still present in the subcortical white matter. This pattern correlates with the arrival and settlement of cortical afferents at the different cortical levels, as described in other studies, and points to the likelihood that transitory cellular populations are important clues in the modelling of the cerebral cortex during normal development. Transitory populations of macrophages (amoeboid or nascent microglial cells) that appear in great numbers during the same period and in the same regions are involved in the removal of dead cells.
Assuntos
Córtex Cerebral/crescimento & desenvolvimento , Fagócitos/fisiologia , Fagocitose , Envelhecimento , Animais , Sobrevivência Celular , Córtex Cerebral/citologia , Macrófagos/fisiologia , Macrófagos/ultraestrutura , Ratos , Ratos Endogâmicos , Córtex Somatossensorial/citologia , Córtex Somatossensorial/crescimento & desenvolvimento , Córtex Somatossensorial/ultraestruturaRESUMO
PURPOSE: To evaluate tear secretion and corneal sensitivity after laser in situ keratomileusis (LASIK) for the correction of myopia. METHODS: In a prospective study, 48 consecutive eyes (24 patients) underwent LASIK to correct myopia ranging from -3.5 to -12.25 diopters. Tear secretion tested by the tear function index and corneal sensitivity tested using the Cochet-Bonnet esthesiometer were evaluated preoperatively and 1 week and 1, 3, 6, and 9 months postoperatively. RESULTS: Tear secretion and corneal sensitivity after LASIK were reduced during the first 3 months after surgery (p<0.001). Tear secretion returned to its preoperative values only after 9 months. Tear secretion and corneal sensitivity were more depressed in long-term contact lens wearers preoperatively and 6 months after surgery (p<0.05). CONCLUSION: In the correction of myopia, tear secretion was depressed after LASIK during the first 6 months after surgery.
Assuntos
Córnea/fisiopatologia , Ceratomileuse Assistida por Excimer Laser In Situ , Lágrimas/metabolismo , Adulto , Piscadela , Córnea/inervação , Córnea/cirurgia , Síndromes do Olho Seco/etiologia , Síndromes do Olho Seco/metabolismo , Síndromes do Olho Seco/fisiopatologia , Síndromes do Olho Seco/prevenção & controle , Feminino , Humanos , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Masculino , Pessoa de Meia-Idade , Miopia/cirurgia , Soluções Oftálmicas/administração & dosagem , Período Pós-Operatório , Estudos Prospectivos , Recuperação de Função Fisiológica , Limiar SensorialRESUMO
Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.
Assuntos
Aberrações Cromossômicas/genética , Expressão Gênica/genética , Mutação Puntual/genética , Retinose Pigmentar/genética , Rodopsina/genética , Cromossomo X/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Pré-Escolar , Transtornos Cromossômicos , Citogenética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct sequentiation and restriction analysis with the enzyme Mspl, showed a C-->T change in the second base of 347 codon of RHO gene. This mutation predicts a change of proline by leucine at this position. Every patient with the mutation showed a phenotype of diffuse, early onset and severe pigmentary retinosis with a little intrafamiliar variation. The Pro347Leu mutation, that has been very frequently described among all the populations, has been identified as a cause of RP in an Spanish family.
Assuntos
Mutação , Retinose Pigmentar/genética , Rodopsina/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , EspanhaRESUMO
Bacillus coagulans is a ubiquitous soil bacterium that grows at 50-55 °C and pH 5.0 and ferments various sugars that constitute plant biomass to L (+)-lactic acid. The ability of this sporogenic lactic acid bacterium to grow at 50-55 °C and pH 5.0 makes this organism an attractive microbial biocatalyst for production of optically pure lactic acid at industrial scale not only from glucose derived from cellulose but also from xylose, a major constituent of hemicellulose. This bacterium is also considered as a potential probiotic. Complete genome sequence of a representative strain, B. coagulans strain 36D1, is presented and discussed.
RESUMO
Despite being a major component of the pseudorabies virus tegument, VP22 is not required for PRV replication, virulence, or neuroinvasion (T. del Rio, H. C. Werner, and L. W. Enquist, J. Virol. 76:774-782, 2002). In the absence of VP22, tegument assembly compensates in a limited fashion with increased incorporation of cellular actin. Infection of epithelial cell lines expressing fluorescent actin fusion proteins resulted in the incorporation of filamentous and nonfilamentous actin into individual virions that were predominately light, noninfectious particles. We conclude that cellular actin is incorporated in the tegument of wild-type virions and is part of a compensation mechanism for VP22-null virions.
Assuntos
Actinas/metabolismo , Herpesvirus Suídeo 1/genética , Herpesvirus Suídeo 1/metabolismo , Proteínas Virais/genética , Proteínas Estruturais Virais/genética , Animais , Linhagem Celular , Genes Reporter , Proteínas de Fluorescência Verde/análise , Proteínas de Fluorescência Verde/genética , Herpesvirus Suídeo 1/patogenicidade , Proteínas Virais/metabolismo , Proteínas Estruturais Virais/metabolismo , Vírion/genética , Virulência , Replicação ViralRESUMO
The molecular mechanisms responsible for long-distance, directional spread of alphaherpesvirus infections via axons of infected neurons are poorly understood. We describe the use of red and green fluorescent protein (GFP) fusions to capsid and tegument components, respectively, to visualize purified, single extracellular virions and axonal assemblies after pseudorabies virus (PRV) infection of cultured neurons. We observed heterogeneity in GFP fluorescence when GFP was fused to the tegument component VP22 in both single extracellular virions and discrete puncta in infected axons. This heterogeneity was observed in the presence or absence of a capsid structure detected by a fusion of monomeric red fluorescent protein to VP26. The similarity of the heterogeneous distribution of these fluorescent protein fusions in both purified virions and in axons suggested that tegument-capsid assembly and axonal targeting of viral components are linked. One possibility was that the assembly of extracellular and axonal particles containing the dually fluorescent fusion proteins occurred by the same process in the cell body. We tested this hypothesis by treating infected cultured neurons with brefeldin A, a potent inhibitor of herpesvirus maturation and secretion. Brefeldin A treatment disrupted the neuronal secretory pathway, affected fluorescent capsid and tegument transport in the cell body, and blocked subsequent entry into axons of capsid and tegument proteins. Electron microscopy demonstrated that in the absence of brefeldin A treatment, enveloped capsids entered axons, but in the presence of the inhibitor, unenveloped capsids accumulated in the cell body. These results support an assembly process in which PRV capsids acquire a membrane in the cell body prior to axonal entry and subsequent transport.
Assuntos
Axônios/virologia , Capsídeo/metabolismo , Proteínas Virais/metabolismo , Vírion/fisiologia , Montagem de Vírus , Animais , Antivirais/farmacologia , Western Blotting , Brefeldina A/farmacologia , Células Cultivadas , Técnica Indireta de Fluorescência para Anticorpo , Proteínas de Fluorescência Verde/genética , Proteínas de Fluorescência Verde/metabolismo , Herpesvirus Suídeo 1/genética , Herpesvirus Suídeo 1/fisiologia , Proteínas Luminescentes/genética , Proteínas Luminescentes/metabolismo , Microscopia Confocal , Microscopia Eletrônica , Transporte Proteico , Ratos , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Coloração e Rotulagem , Proteínas do Envelope Viral/metabolismo , Proteínas da Matriz Viral/metabolismo , Proteínas Virais/genética , Vírion/genética , Vírion/ultraestrutura , Proteína Vermelha FluorescenteRESUMO
The tegument of herpesvirus virions is a distinctive structure whose assembly and function are not well understood. The herpes simplex virus type 1 VP22 tegument protein encoded by the UL49 gene is conserved among the alphaherpesviruses. Using cell biology and viral genetics, we provide an initial characterization of the pseudorabies virus (PRV) VP22 homologue. We identified three isoforms of VP22 present in PRV-infected cells that can be resolved by polyacrylamide gel electrophoresis. The predominant form is not phosphorylated and is present in virions, while the other two species are phosphorylated and excluded from virions. VP22 localized to the nucleus by 6 h postinfection, as determined by immunofluorescence and cell fractionation. VP22 immunofluorescence in the nucleus was both diffuse and in punctate structures. The punctate nuclear localization was the most pronounced form of staining and did not localize exclusively to sites of viral DNA replication. Unexpectedly, a VP22 null mutant had no obvious phenotypes during tissue culture infections and was similar to the wild type in all respects. Moreover, the VP22 null mutant was as virulent and neuroinvasive as the wild-type virus after infection of the rodent eye and spread to the brain using both anterograde and retrograde neuronal circuits.
Assuntos
Herpesvirus Suídeo 1/fisiologia , Herpesvirus Suídeo 1/patogenicidade , Neurônios/virologia , Pseudorraiva/virologia , Roedores/virologia , Proteínas Estruturais Virais/metabolismo , Replicação Viral , Animais , Linhagem Celular , Núcleo Celular/metabolismo , Núcleo Celular/virologia , DNA Recombinante/genética , Técnica Indireta de Fluorescência para Anticorpo , Deleção de Genes , Herpesvirus Suídeo 1/genética , Herpesvirus Suídeo 1/crescimento & desenvolvimento , Masculino , Neurônios/citologia , Neurônios/patologia , Fenótipo , Fosforilação , Testes de Precipitina , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Processamento de Proteína Pós-Traducional , Transporte Proteico , Pseudorraiva/transmissão , Ratos , Ratos Sprague-Dawley , Homologia de Sequência de Aminoácidos , Suínos , Proteínas Estruturais Virais/química , Proteínas Estruturais Virais/genética , VirulênciaRESUMO
OBJECTIVE: Lens autofluorescence originates from an accumulation of fluorescent substances that are associated with the process of cataractogenesis and lens aging. The aim of this study was to determine whether postmenopausal estrogen use reduces age-related nuclear sclerosis in women. DESIGN: The authors designed a case-controlled study. PARTICIPANTS: Nineteen postmenopausal women reporting estrogen use for more than 4 years (group 1), 20 postmenopausal women reporting no estrogen use (group 2), and 23 age-matched men (group 3) were studied. INTERVENTION: The authors performed fluorophotometry. MAIN OUTCOME MEASURES: Corneal and lens autofluorescence and lens transmittance were measured. RESULTS: Lens transmittance values were 0.905 +/- 0.03, 0.839 +/- 0.08, and 0.841 +/- 0.08 in the three groups, respectively. There was a statistically significant difference between group 1 and the other two groups (P < 0.01). CONCLUSIONS: These data are suggestive of a protective effect of estrogen use on the lenses of postmenopausal women.
Assuntos
Terapia de Reposição de Estrogênios , Cristalino/fisiologia , Pós-Menopausa , Envelhecimento/efeitos dos fármacos , Envelhecimento/fisiologia , Estudos de Casos e Controles , Catarata/prevenção & controle , Córnea/fisiologia , Estriol/uso terapêutico , Feminino , Fluorescência , Fluorofotometria , Humanos , Luz , Masculino , Pessoa de Meia-Idade , Acuidade VisualRESUMO
The Us9 protein is a phosphorylated membrane protein present in the lipid envelope of pseudorabies virus (PRV) particles in a unique tail-anchored type II membrane topology. In this report, we demonstrate that the steady-state residence of the Us9 protein is in a cellular compartment in or near the trans-Golgi network (TGN). Through internalization assays with an enhanced green fluorescent protein epitope-tagged Us9 protein, we demonstrate that the maintenance of Us9 to the TGN region is a dynamic process involving retrieval of molecules from the cell surface. Deletion analysis of the cytoplasmic tail reveals that an acidic cluster containing putative phosphorylation sites is necessary for the recycling of Us9 from the plasma membrane. The absence of this cluster results in the relocalization of Us9 to the plasma membrane due to a defect in endocytosis. The acidic motif, however, does not contain signals needed to direct the incorporation of Us9 into viral envelopes. In this study, we also investigate the role of a dileucine endocytosis signal in the Us9 cytoplasmic tail in the recycling and retention of Us9 to the TGN region. Site-directed mutagenesis of the dileucine motif results in an increase in Us9 plasma membrane staining and a partial internalization defect.
Assuntos
Glicoproteínas , Herpesvirus Suídeo 1/metabolismo , Lipoproteínas/metabolismo , Proteínas de Membrana , Fosfoproteínas/metabolismo , Proteínas do Envelope Viral/metabolismo , Proteínas Virais , Animais , Sítios de Ligação , Linhagem Celular , Citoplasma/metabolismo , Líquido Intracelular/metabolismo , Peptídeos e Proteínas de Sinalização Intracelular , Leucina/metabolismo , Lipoproteínas/genética , Glicoproteínas de Membrana/metabolismo , Camundongos , Camundongos Endogâmicos BALB C , Fosfoproteínas/genética , Fosforilação , Coelhos , Proteínas do Envelope Viral/genética , Vírion/metabolismoRESUMO
Williams syndrome (WS) is a multisystem developmental disorder associated with microdeletions at 7q11.23 that involve several genes, including the elastin gene. Using genomic DNA from a panel of normal individuals and WS patients with established hemizygosity of the elastin gene locus, we have developed a quantitative polymerase chain reaction (PCR)-based gene-dosage assay that rapidly detects the loss of one allele of the elastin gene. Using this procedure, we also studied a family in which the proband was previously diagnosed with WS and her mother with a balanced 7q translocation [t(7:11)(q34;q13)]. Using DNA isolated from buccal smears obtained from several individuals in this family we were able to establish normal disomy at 7q in all family members except for the proband, in which we established hemizygosity at the elastin gene locus. We were also able to successfully infer normal disomy in an unborn child in this family. The rapid diagnostic procedure described here may have a variety of applications, including fine mapping of deletion breakpoints at 7q11.23 associated with WS.
Assuntos
Elastina/genética , Deleção de Genes , Dosagem de Genes , Reação em Cadeia da Polimerase/métodos , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Adulto , Criança , Cromossomos Humanos Par 11/genética , Feminino , Humanos , Masculino , LinhagemRESUMO
Muscular alteration due to chronic obstructive arteriopathy in lower extremities was studied in 50 patients. An arteriosclerotic pure clinical picture was found in a 50% of them, while the other were associated to diabetes. Histopathological features present in both groups were quite similar and no substantial differences between diabetic and non diabetic patients were found. In patients with an acute clinical course, myopathic changes predominate in tibialis anterior muscle. However, neuropathic alterations were more frequently found in patients with a chronic clinical course. Although histological changes characteristic of chronic obstructive arteriopathy do not exist, this disease can be defined by a characteristic association of muscle lesions that will constitute the "chronic ischaemic myopathy" histological picture. Because of this, muscle biopsy examination in such patients will deliver important information to orient therapeutic attitudes and prognostic predictions.
Assuntos
Arteriopatias Oclusivas/patologia , Perna (Membro)/irrigação sanguínea , Músculos/patologia , Doença Crônica , Humanos , Pessoa de Meia-Idade , Músculos/irrigação sanguíneaRESUMO
Retinitis Pigmentosa (RP) is a group of inherited retinopathies which affect approximately 1 in 4,000 individuals. The disorder can be classified on the basis of inheritance; dominant, recessive and X-linked forms have been well documented. The existence of genetic heterogeneity within autosomal dominant RP (adRP) had been previously demonstrated. As a result of extensive linkage studies in 2 large Irish families and 1 American pedigree three adRP genes have been mapped. adRP genes have been localised to chromosome 3q close to the rod photoreceptor gene, rhodopsin; to chromosome 6p close to another transmembrane photoreceptor gene, peripherin/RDS and to the pericentric region of chromosome 8, although the causative gene in this region has not yet been identified. Here we report the results of a linkage study in a Spanish family, who exhibit an early-onset form of adRP. The adRP gene segregating in this family has been excluded from the three known adRP loci on chromosomes 3q, 6p and 8 using a series of both intragenic microsatellite markers from the rhodopsin and peripherin/RDS genes and markers flanking the three known loci. These results provide definitive evidence for the existence of a fourth adRP locus, further emphasising the genetic heterogeneity that exists within adRP.
Assuntos
Cromossomos Humanos Par 3 , Cromossomos Humanos Par 6 , Cromossomos Humanos Par 8 , Genes Dominantes , Retinose Pigmentar/genética , Mapeamento Cromossômico , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem , Reação em Cadeia da Polimerase/métodos , Rodopsina/genéticaRESUMO
The Us2 gene is conserved among alphaherpesviruses, but its function is not known. We demonstrate here that the pseudorabies virus (PRV) Us2 protein is synthesized early after infection and localizes to cytoplasmic vesicles and to the plasma membrane, despite the lack of a recognizable signal sequence or membrane-spanning domain. Us2 protein is also packaged as part of the tegument of mature virions. The Us2 carboxy-terminal four amino acids comprise a CAAX motif, a well-characterized signal for protein prenylation. Treatment of infected cells with lovastatin, a drug that disrupts protein prenylation, changed the relative electrophoretic mobility of Us2 in sodium dodecyl sulfate-polyacrylamide gels. In addition, lovastatin treatment caused a dramatic relocalization of Us2 to cytoplasmic punctate structures associated with microtubules, which appeared to concentrate over the microtubule organizing center. When the CAAX motif was changed to GAAX and the mutant protein was synthesized from an expression plasmid, it concentrated in punctate cytoplasmic structures reminiscent of Us2 localization in infected cells treated with lovastatin. We suggest that prenylation of PRV Us2 protein is required for proper membrane association. Curiously, the Us2 protein isolated from purified virions does not appear to be prenylated. This is the first report to describe the prenylation of an alphaherpesvirus protein.
Assuntos
Herpesvirus Suídeo 1/química , Prenilação de Proteína , Proteínas do Envelope Viral/metabolismo , Motivos de Aminoácidos , Sequência de Aminoácidos , Animais , Linhagem Celular , Membrana Celular/metabolismo , Dados de Sequência Molecular , Suínos , Transfecção , Proteínas do Envelope Viral/análise , Proteínas do Envelope Viral/química , Virulência , Montagem de Vírus , Replicação ViralRESUMO
A family affected with autosomal dominant retinitis pigmentosa (RP) is presented. Two clinically affected patients (mother and daughter) were heterozygous for the same novel missense mutation (Val137Met) of the rhodopsin gene (RHO). Both heterozygous and homozygous cases were observed among their few symptomatic relatives. Wide clinical variation was exhibited among the individuals with mutations in this family. None of the controls showed this change in RHO, nor has it been previously reported in other RP families. No other RHO mutation was observed. Additional genetic or environmental factors could play a role in modulating the penetrance and clinical expression of this RHO mutation.