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[PMID]:28456785
[Au] Autor:Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
[Ad] Endereço:BGI-Shenzhen, Shenzhen, China.
[Ti] Título:Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
[So] Source:Oncotarget;8(21):35176-35183, 2017 May 23.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Amaurose Congênita de Leber/genética
Mutação
Proteínas/genética
Retinite Pigmentosa/genética
[Mh] Termos MeSH secundário: Adulto
China
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Masculino
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (RPGRIP1 protein, human)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.17052


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[PMID]:29378559
[Au] Autor:Anil K; Garip G
[Ad] Endereço:University of Derby Online Learning, Derby, England, United Kingdom. k.anil@soton.ac.uk.
[Ti] Título:Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study.
[So] Source:BMC Ophthalmol;18(1):21, 2018 Jan 30.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at home with retinitis pigmentosa. METHOD: One hundred and five participants (70 female; mean of 46.98, SD = 13.77) completed a cross-sectional survey. The questionnaire booklet consisted of the Coping Strategies Inventory - Short Form (32 items), the National Eye Institute Visual Functioning Questionnaire 25 (25 items), Marylands Trait Depression Scale (18 items), the Warwick-Edinburgh Mental Well-being Scale (14 items), and the Subjective Happiness Scale (4 items). RESULTS: Data was analysed with a two-block hierarchical multiple regression, with the first block controlling for the demographic data (age, sex, years since retinitis pigmentosa diagnosis, number of comorbidities, participant-perceived retinitis pigmentosa severity, and knowing RP type) and the second block consisting of primary measures (type of coping strategy, VRQoL, and Emotional Health). Type of coping strategy was found to impact psychosocial variables of VRQoL, not overall VRQoL. These psychosocial VRQoL variables had a positive association with ECS and a negative association with DCS. Emotional Health increased with ECS and decreased with DCS. There was a larger impact of DCS on VRQoL and Emotional Health compared to ECS, that is, VRQoL and Emotional Health decreased more with increasing DCS than VRQoL, and Emotional Health increased with increasing ECS. CONCLUSION: In concordance with previous research, ECS increased with increasing VRQoL and DCS decreased with increasing VRQoL. However, the findings also indicated that DCS had a greater impact than ECS on VRQoL and Emotional Health. This suggests that diminishing DCS should be prioritised over developing ECS to positively influence VRQoL and Emotional Health. Further research should investigate the impact of reducing DCS compared to increasing ECS, and how this may influence VRQoL and Emotional Health.
[Mh] Termos MeSH primário: Adaptação Psicológica
Emoções
Saúde Mental
Qualidade de Vida/psicologia
Retinite Pigmentosa/psicologia
Inquéritos e Questionários
Acuidade Visual
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos Transversais
Feminino
Seres Humanos
Masculino
Meia-Idade
Retinite Pigmentosa/diagnóstico
Retinite Pigmentosa/fisiopatologia
Autorrelato
Perfil de Impacto da Doença
Campos Visuais
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180131
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-018-0689-2


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[PMID]:29222719
[Au] Autor:Bittner AK; Seger K
[Ad] Endereço:Nova Southeastern University, College of Optometry, 3200 S. University Drive, Fort Lauderdale, FL, 33328, USA. abittne1@jhmi.edu.
[Ti] Título:Longevity of visual improvements following transcorneal electrical stimulation and efficacy of retreatment in three individuals with retinitis pigmentosa.
[So] Source:Graefes Arch Clin Exp Ophthalmol;256(2):299-306, 2018 Feb.
[Is] ISSN:1435-702X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: A small-scale randomized controlled trial conducted by our group found that four of seven retinitis pigmentosa (RP) subjects who received six weekly Transcorneal Electrical Stimulation (TES) sessions developed significant improvements in visual acuity (VA), quick contrast sensitivity function (qCSF), and/or Goldmann visual fields (GVF). We longitudinally monitored three of these participants for declining visual function due to natural RP progression to determine the duration of their responses and administered retreatments. METHODS: Over a period of 29-35 months, repeated ETDRS VA, qCSF and/or GVF tests and three to six TES treatment courses consisting of six weekly sessions were administered in each eye of three RP participants every four to 16 months in an unmasked, prospective case series study. RESULTS: For two participants, there were significant VA improvements of 44-52 letters (0.88-1.04 logMAR) and 15-23 letters (0.3-0.46 logMAR) in the worse eye at baseline after each of three or four treatment courses of TES compared to initial baseline. They had no significant decreases from baseline for VA or qCSF over 29 to 35 months, The third participant had a significant mean improvement in VA in the eye with better baseline vision (p = 0.004) and binocularly (p < 0.001) following six treatment courses over the 29-month period. For the first two participants, mean annual rates of GVF change for each eye ranged from -5% to 0% with the V4e stimulus, and -26% to +33% the III4e stimulus. The third participant's mean annual GVF changes were +14 to +35%, with a statistically significant improvement across 29 months for both the V4e and III4e stimuli in the right eye (p = 0.045; p = 0.015) and the V4e stimulus in the left eye (p = 0.047). CONCLUSION: Following encouraging visual improvements after TES that lasted for several months, it appears it may be possible to restore and prevent slowly diminishing vision over time with retreatments, which requires confirmation in a large-scale randomized controlled trial.
[Mh] Termos MeSH primário: Estimulação Elétrica/métodos
Retina/patologia
Retinite Pigmentosa/terapia
Baixa Visão/etiologia
Acuidade Visual
Campos Visuais
[Mh] Termos MeSH secundário: Adulto
Sensibilidades de Contraste
Córnea
Método Duplo-Cego
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Estudos Prospectivos
Retina/fisiopatologia
Retinite Pigmentosa/diagnóstico
Retinite Pigmentosa/fisiopatologia
Retratamento
Fatores de Tempo
Tomografia de Coerência Óptica
Resultado do Tratamento
Baixa Visão/fisiopatologia
Baixa Visão/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171210
[St] Status:MEDLINE
[do] DOI:10.1007/s00417-017-3858-8


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[PMID]:28451987
[Au] Autor:Nair AA; Marmor MF
[Ad] Endereço:Department of Ophthalmology and Byers Eye Institute, Stanford University School of Medicine, 2452 Watson Court, Palo Alto, 94303-3216, CA, USA.
[Ti] Título:ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa.
[So] Source:Doc Ophthalmol;134(3):175-183, 2017 06.
[Is] ISSN:1573-2622
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance. METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak. Diffuse RP had typical loss of the rod ERG and flicker timing delay. All patients showed reduced amplitude of the ISCEV responses in the full-field electroretinogram (ERG). Aspects of history, visual field results, fundus appearance, fundus autofluorescence and ocular coherence tomography were also compared. RESULTS: Relative to pericentral RP, patients with HCQ toxicity showed delayed flicker ERG time-to-peak and lower ERG amplitudes, particularly combined rod-cone responses. Relative to diffuse RP, most HCQ toxicity patients had some preserved rod ERG response, and there was no obvious predilection for rod over cone damage. In addition, patients with HCQ toxicity usually lacked markers of long-standing degeneration such as bone spicule figures or severe loss of peripheral field. History of familial disease and long-standing night blindness were specific to RP. CONCLUSIONS: While the early signs of HCQ damage are typically regional in the posterior pole, advanced disease is characteristically diffuse (unlike pericentral RP). This is appropriate for a systemic toxin, as is the finding that rods and cones were both affected in the ERG to a similar degree (unlike genetic rod-cone dystrophies). For patients with severe HCQ exposure and some of our discriminatory findings, and no family history or prior night blindness, HCQ toxicity is a sufficient diagnosis without invoking a second rare disease (Occam's razor).
[Mh] Termos MeSH primário: Eletrorretinografia
Inibidores Enzimáticos/efeitos adversos
Hidroxicloroquina/efeitos adversos
Doenças Retinianas/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Diagnóstico Diferencial
Feminino
Seres Humanos
Masculino
Meia-Idade
Células Fotorreceptoras de Vertebrados/fisiologia
Retinite Pigmentosa/diagnóstico
Estudos Retrospectivos
Campos Visuais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 4QWG6N8QKH (Hydroxychloroquine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1007/s10633-017-9588-8


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[PMID]:29253887
[Au] Autor:Jensen R
[Ad] Endereço:Research Service, VA Boston Healthcare System, Boston, Massachusetts, United States of America.
[Ti] Título:Effects of GABACR and mGluR1 antagonists on contrast response functions of Sprague-Dawley and P23H rat retinal ganglion cells.
[So] Source:PLoS One;12(12):e0189980, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The GABACR antagonist TPMPA and the mGluR1 antagonist JNJ16259685 have been shown previously to alter the sensitivity of retinal ganglion cells (RGCs) in the Sprague-Dawley (SD) rat and P23H rat (animal model of retinitis pigmentosa) to brief flashes of light. In order to better understand the effects of these antagonists on the visual responses of SD and P23H rat RGCs, I examined the responses of RGCs to a drifting sinusoidal grating of various contrasts. Multielectrode array recordings were made from RGCs to a drifting sinusoidal grating of a spatial frequency of 1 cycle/mm and a temporal frequency of 2 cycles/s. In both SD and P23H rat retinas, contrast response functions were found to have a variable shape across cells. Some cells showed saturation of responses at high contrast levels while others did not. Whereas 49% of SD rat RGCs exhibited response saturation, only 14% of P23H rat RGCs showed response saturation. TPMPA decreased the responses of saturating SD rat RGCs to low (6% to 13%) grating contrasts but increased the response to the highest contrast (83%) tested. JNJ16259685 did not significantly affect the contrast response functions of either saturating or non-saturating SD rat RGCs. In contrast, both TPMPA and JNJ16259685 increased the responses of saturating and non-saturating P23H rat RGCs to all grating contrasts. Neither TPMPA nor JNJ16259685 affected the contrast thresholds of SD rat RGCs, but both antagonists lowered the contrast thresholds of P23H rat RGCs. Overall, the findings show that GABACR and mGluR1 antagonists have differential effects on the contrast response functions of SD and P23H rat RGCs. Notably, these receptor antagonists increase the responsiveness of P23H rat RGCs to both low and high contrast visual stimuli.
[Mh] Termos MeSH primário: Receptores de GABA/metabolismo
Receptores de Glutamato Metabotrópico/antagonistas & inibidores
Células Ganglionares da Retina/metabolismo
Retinite Pigmentosa/metabolismo
[Mh] Termos MeSH secundário: Animais
Comportamento Animal
Calibragem
Modelos Animais de Doenças
Eletrodos
Eletrofisiologia
Feminino
Homozigoto
Masculino
Ratos
Ratos Sprague-Dawley
Receptores de Glutamato Metabotrópico/metabolismo
Retina/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GABA-C receptor); 0 (Receptors, GABA); 0 (Receptors, Metabotropic Glutamate); 0 (metabotropic glutamate receptor type 1)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180112
[Lr] Data última revisão:
180112
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171219
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189980


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[PMID]:29260190
[Au] Autor:Xiao X; Cao Y; Zhang Z; Xu Y; Zheng Y; Chen LJ; Pang CP; Chen H
[Ad] Endereço:Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China.
[Ti] Título:Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.
[So] Source:Invest Ophthalmol Vis Sci;58(14):6342-6350, 2017 Dec 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. Methods: We recruited RP families and sporadic RP patients, and performed whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we investigated the expression of green fluorescent protein (GFP) merged expression vectors containing PRPF31 wild type (WT) and its variants. We determined protein stability by cycloheximide (CHX) treatment. Results: Two frameshift variants, c.547delG (p.E183fs) and c.804delG (p.L268fs), and one stopgain variant, c.1060C>T (p.R354X), in the pre-mRNA processing factor 31 gene (PRPF31) were identified in three RP families. In comparison with WT, the expressions of GFP-fused PRPF31 (GFP-PRPF31) protein with the mutation c.547delG or c.804delG in HEK293 cells were significantly reduced. However, the expression of GFP-PRPF31 containing the stopgain mutation (GFP-PRPF31sg) was increased. CHX treatment of HEK293 showed the GFP-PRPF31sg protein was more stable than GFP-PRPF31 WT. The WT protein expression was localized in the nuclei, and the mutants in both nuclei and cytoplasm. We screened for PRPF31 mutations in 131 sporadic RP patients by WES and successfully identified three novel mutations: c.G781C (p.G261R), c.A1373T (p.Q458L), and c.C1222T (p.R408W). Conclusions: Our study revealed novel mutations of PRPF31 in RP. Our results also showed that the two mutations (c.547delG or c.804delG) affect gene expression and GFP-PRPF31sg has increased protein stability.
[Mh] Termos MeSH primário: Proteínas do Olho/genética
Mutação
Retinite Pigmentosa/genética
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Células Cultivadas
Exoma
Proteínas do Olho/metabolismo
Feminino
Predisposição Genética para Doença
Genótipo
Proteínas de Fluorescência Verde/metabolismo
Seres Humanos
Masculino
Meia-Idade
Linhagem
Retinite Pigmentosa/metabolismo
Sequenciamento Completo do Genoma/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Eye Proteins); 0 (PRPF31 protein, human); 147336-22-9 (Green Fluorescent Proteins)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171227
[Lr] Data última revisão:
171227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171221
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-22952


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[PMID]:28453362
[Au] Autor:Latasiewicz M; Salvetti AP; MacLaren RE
[Ad] Endereço:a Oxford Eye Hospital , Oxford University Hospitals NHS Foundation Trust , Oxford , UK.
[Ti] Título:A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
[So] Source:Ophthalmic Genet;38(6):562-566, 2017 Dec.
[Is] ISSN:1744-5094
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted. Next generation sequencing was used to identify the mutation which was next confirmed by bidirectional Sanger sequencing. RESULTS: A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism. CONCLUSIONS: Since the cDNA encoding TOPORS is 3,135 nucleotides (within the coding capacity of AAV vectors) and haploinsufficiency is a mechanism relating to inadequate gene expression, gene replacement therapy may be an option for patients with this condition.
[Mh] Termos MeSH primário: Códon sem Sentido
Haploinsuficiência/genética
Proteínas de Neoplasias/genética
Proteínas Nucleares/genética
Retinite Pigmentosa/genética
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Adulto
Análise Mutacional de DNA
Feminino
Genes Dominantes
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Meia-Idade
Mutação
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (Neoplasm Proteins); 0 (Nuclear Proteins); EC 2.3.2.27 (TOPORS protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171201
[Lr] Data última revisão:
171201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1080/13816810.2017.1313994


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[PMID]:28462455
[Au] Autor:Al-Khersan H; Shah KP; Jung SC; Rodriguez A; Madduri RK; Grassi MA
[Ad] Endereço:Pritzker School of Medicine, The University of Chicago, Chicago, IL, 60637, USA.
[Ti] Título:A novel MERTK mutation causing retinitis pigmentosa.
[So] Source:Graefes Arch Clin Exp Ophthalmol;255(8):1613-1619, 2017 Aug.
[Is] ISSN:1435-702X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the present study was to characterize the underlying mutation in a patient with RP without a molecular diagnosis after initial genetic testing. METHODS: Whole-exome sequencing of the affected proband was performed. Candidate gene mutations were selected based on adherence to expected genetic inheritance pattern and predicted pathogenicity. Sanger sequencing of MERTK was completed on the patient's unaffected mother, affected brother, and unaffected sister to determine genetic phase. RESULTS: Eight sequence variants were identified in the proband in known RP-associated genes. Sequence analysis revealed that the proband was a compound heterozygote with two independent mutations in MERTK, a novel nonsense mutation (c.2179C > T) and a previously reported missense variant (c.2530C > T). The proband's affected brother also had both mutations. Predicted phase was confirmed in unaffected family members. CONCLUSION: Our study identifies a novel nonsense mutation in MERTK in a family with RP and no prior molecular diagnosis. The present study also demonstrates the clinical value of exome sequencing in determining the genetic basis of Mendelian diseases when standard genetic testing is unsuccessful.
[Mh] Termos MeSH primário: DNA/genética
Mutação
Retinite Pigmentosa/genética
c-Mer Tirosina Quinase/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Exoma
Feminino
Seres Humanos
Masculino
Oftalmoscopia
Linhagem
Retina/patologia
Retinite Pigmentosa/diagnóstico
Retinite Pigmentosa/metabolismo
c-Mer Tirosina Quinase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA); EC 2.7.10.1 (MERTK protein, human); EC 2.7.10.1 (c-Mer Tyrosine Kinase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE
[do] DOI:10.1007/s00417-017-3679-9


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[PMID]:29075762
[Au] Autor:Okado S; Ueno S; Kominami T; Nakanishi A; Inooka D; Sayo A; Kondo M; Terasaki H
[Ad] Endereço:Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[Ti] Título:Temporal Properties of Flicker ERGs in Rabbit Model of Retinitis Pigmentosa.
[So] Source:Invest Ophthalmol Vis Sci;58(12):5518-5525, 2017 Oct 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: We determined the effects of a remodeled inner retina on the flicker electroretinograms (ERGs) in a rabbit eye at an advanced stage of inherited retinal degeneration. Methods: Six wild-type (WT) and four rhodopsin P347L transgenic (Tg) rabbits were studied at 18 months of age. Flicker ERGs were elicited by sinusoidal stimuli at frequencies of 3.906 to 50.781 Hz. To block the ON and OFF retinal pathways, 2-amino-4-phosphonobutyric acid (APB), and 6-cyano-7-nitroquinoxaline-2, 3(1H, 4H)-dione (CNQX), respectively, were injected intravitreally. The amplitudes and phases of the fundamental components of the pre- and postdrug ERGs were analyzed. The postsynaptic APB (ON-) and CNQX (OFF-) sensitive components were determined by examining the phases and amplitude vectors. Results: The temporal properties of the Tg rabbits were different from those of the WT rabbits and had unique features; at 3.906 Hz, the amplitude was depressed but it increased by more than 3.5-fold at 15.625 Hz. The reduction of the amplitude at 3.906 Hz in Tg rabbits was caused by a cancelation of the ON and OFF components by a phase difference of 180°. On the other hand, an increase in the amplitude at 15.625 Hz in Tg rabbits was caused by the summation of the ON and OFF components, which had an approximate 120° phase difference. Conclusions: The temporal properties of the flicker ERGs of Tg rabbits were affected markedly by the remodeling of the retinal neurons. Evaluations of the flicker ERGs in RP eyes must be done with careful considerations of the current findings.
[Mh] Termos MeSH primário: Eletrorretinografia/métodos
Retina/fisiopatologia
Retinite Pigmentosa/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Animais Geneticamente Modificados
Modelos Animais de Doenças
Estimulação Luminosa
Coelhos
Retina/patologia
Neurônios Retinianos/fisiologia
Retinite Pigmentosa/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171028
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-22332


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[PMID]:29054413
[Au] Autor:Mordel P; Schaeffer S; Dupas Q; Laville MA; Gérard M; Chapon F; Allouche S
[Ad] Endereço:Normandie Univ, UNICAEN, CHU Caen, Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique, Caen, F-14032, France.
[Ti] Título:A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
[So] Source:Biochem Biophys Res Commun;494(1-2):133-137, 2017 Dec 09.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%). Using the patient's fibroblasts, we demonstrated a 60% reduction of the oligomycin-sensitive ATPase hydrolytic activity, a 40% decrease in the ATP synthesis and determination of the mitochondrial membrane potential using the fluorescent probe tetramethylrhodamine, ethyl ester indicated a significant reduction in oligomycin sensitivity. In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome.
[Mh] Termos MeSH primário: Miopatias Mitocondriais/enzimologia
Miopatias Mitocondriais/genética
ATPases Mitocondriais Próton-Translocadoras/genética
Retinite Pigmentosa/enzimologia
Retinite Pigmentosa/genética
Deleção de Sequência
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Adenosina Trifosfatases/metabolismo
Trifosfato de Adenosina/metabolismo
Sequência de Bases
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Células Cultivadas
Análise Mutacional de DNA
DNA Mitocondrial/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Potencial da Membrana Mitocondrial/efeitos dos fármacos
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
ATPases Mitocondriais Próton-Translocadoras/metabolismo
Oligomicinas/farmacologia
Síndrome
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (DNA, Mitochondrial); 0 (Membrane Proteins); 0 (Oligomycins); 8L70Q75FXE (Adenosine Triphosphate); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.- (Mitochondrial Proton-Translocating ATPases); EC 3.6.3.14 (MT-ATP6 protein, human); EC 3.6.3.14 (oligomycin sensitivity-conferring protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171022
[St] Status:MEDLINE



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