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1.
Ceska Gynekol ; 89(4): 269-277, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39242201

RESUMEN

OBJECTIVE: Endometrial polyp (EP) is a type of pathology that is quite common in clinical practice. Although its exact etiology is not fully known, there is evidence to support that it is sensitive to hormonal stimuli. We aimed to investigate the relationship between kisspeptin (KP) and EP by comparing the genetic (tissue-blood) and immunohistochemical (IHC) expression of KP in EP lesions in patients with normal endometrial findings. MATERIALS AND METHODS: A prospective case-control study of 50 patients with EP (N = 25) and normal endometrial findings (N = 25) on biopsy and/or excision material was performed. Blood and biopsy samples obtained from all patients were stored at -80 °C. KP gene expression levels were determined from paraffin blocks, and peripheral venous blood samples obtained from biopsy specimens and IHC-H-score analysis were performed from paraffin blocks. EP and matched controls were compared for KP. RESULTS: After IHC, the KP H-score of the control group was higher than the EP group, and this difference was statistically significant; H-score: control: 5 (++; 1-15); polyp: 1 (+; 0-12) (P < 0.05). Although KP expression in both tissue and blood was higher in the control group than in the EP group, this difference was not statistically significant (P > 0.05). No significant correlation was found between IHC H-score and KP expression levels in tissue and blood. According to the ROC analysis, the tissue and blood KP expression cut-off value and area under the curve (AUC) predicting the likelihood of developing EP were not significant (tissue KP: 1.04, AUC: 0.570, P = 0.388, sensitivity 56%, specificity 60%, Blood KP: 1.06, AUC: 0.569, P = 0.401, sensitivity 80%, specificity 40%). CONCLUSIONS: Decreased KP expression level in EP lesions may predict the diagnosis of EP, and in the future, KP may have therapeutic potential for benign gynecological pathologies such as polyps.


Asunto(s)
Inmunohistoquímica , Kisspeptinas , Pólipos , Humanos , Femenino , Pólipos/genética , Pólipos/metabolismo , Pólipos/patología , Kisspeptinas/genética , Kisspeptinas/metabolismo , Estudios de Casos y Controles , Enfermedades Uterinas/genética , Enfermedades Uterinas/metabolismo , Enfermedades Uterinas/patología , Enfermedades Uterinas/sangre , Estudios Prospectivos , Adulto , Endometrio/metabolismo , Endometrio/patología , Persona de Mediana Edad
2.
Int Ophthalmol ; 44(1): 288, 2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38937308

RESUMEN

PURPOSE: Age-related cataract (ARC) is the most common cause of visual impairment and blindness in older adults. However, the role of CUL4B in the ARC remains unclear. Therefore, we investigated CUL4B expression and its effects on apoptosis. MATERIALS AND METHODS: CUL4B expression levels were detected by a quantitative real-time polymerase chain reaction from the anterior lens capsules of patients with ARC and HLE-B3 cells treated with different concentrations of H2O2. CUL4B expression was silenced by siRNA transfection to evaluate apoptosis. CUL4B and apoptotic proteins B cell lymphoma 2 (Bcl-2), myeloid cell leukemia 1 (Mcl-1), caspase-3, cleaved caspase-3, Bax, Bak, and Bid were assessed using western blot analysis. Apoptosis was monitored using the TUNEL assay. RESULTS: CUL4B expression was downregulated in the anterior lens capsules (P < 0.0001) and H2O2-treated HLE-B3 cells (P = 0.0405). CUL4B protein levels were significantly lower in 100 µmol/L (P = 0.0012) and 200 µmol/L (P = 0.0041) H2O2-treated HLE-B3 cells than in the untreated cells. CUL4B expression was significantly knocked down at the mRNA (P = 0.0043) and protein levels (P = 0.0002) in HLE-B3 cells. Bcl-2 (P = 0.0199), Mcl-1 (P = 0.0042), and caspase-3 (P = 0.0142) were significantly downregulated, whereas cleaved caspase-3 (P = 0.0089) and Bak (P = 0.009) were significantly upregulated in the knockdown group. The TUNEL assay showed a greater induction of apoptosis. CONCLUSIONS: CUL4B downregulation promotes the apoptosis of lens epithelial cells. Our study may help in understanding the role of CUL4B in ARC pathogenesis.


Asunto(s)
Apoptosis , Catarata , Proteínas Cullin , Humanos , Catarata/metabolismo , Catarata/genética , Catarata/etiología , Proteínas Cullin/genética , Proteínas Cullin/metabolismo , Proteínas Cullin/biosíntesis , Masculino , Femenino , Anciano , Western Blotting , Reacción en Cadena en Tiempo Real de la Polimerasa , Persona de Mediana Edad , Envejecimiento , Regulación de la Expresión Génica , Cápsula del Cristalino/metabolismo , Cápsula del Cristalino/patología , Etiquetado Corte-Fin in Situ
3.
Rheumatol Int ; 34(9): 1257-61, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24671502

RESUMEN

Fibromyalgia may present with widespread pain and tenderness, fatigue, anxiety, and depression and is associated with a low pain threshold. The etiology of fibromyalgia is yet to be ascertained, although both genetic and environmental factors may play a role in the susceptibility of patients to fibromyalgia. Various genetic variations have been investigated to explain fibromyalgia susceptibility and differences in pain sensitivity, pain threshold, and tolerance. The A118G rs1799971 polymorphism in the opioid receptor µ1 gene (OPRM1) is one of the candidate genes. We hypothesized that the OPRM1 polymorphism may play a role in fibromyalgia susceptibility and impact the pain intensity and pain-related symptoms in fibromyalgia patients. This study comprised of 108 patients with fibromyalgia and 100 healthy controls. Overall, the 118G allele frequency was 16.3 % and was significantly lower in patients with fibromyalgia than in the control group (13.9 and 19 %, respectively). No difference was observed between fibromyalgia patients with and without the A118G allele with regard to the Beck Depression Inventory, widespread pain index, symptom severity, and Fibromyalgia Impact Questionnaire scores. All body parts of patients with fibromyalgia demonstrated lower pressure pain thresholds (PPT) compared to controls. The PPTs were higher in the 118 A/A genotype carrier fibromyalgia patients than in 118*/G carriers; however, the differences were not significant. As the A118G polymorphism frequency was lower in fibromyalgia patients, this polymorphism may exert a protective effect against fibromyalgia in Turkish women. However, the OPRM1 polymorphism does not have a significant effect on pressure pain and fibromyalgia severity.


Asunto(s)
Fibromialgia/genética , Dolor/genética , Polimorfismo Genético , Receptores Opioides mu/genética , Adulto , Estudios de Casos y Controles , Femenino , Fibromialgia/diagnóstico , Fibromialgia/epidemiología , Fibromialgia/fisiopatología , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Dolor/diagnóstico , Dolor/epidemiología , Dolor/fisiopatología , Dimensión del Dolor , Umbral del Dolor , Fenotipo , Valor Predictivo de las Pruebas , Factores Protectores , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Turquía/epidemiología
4.
Am J Alzheimers Dis Other Demen ; 30(8): 756-61, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23038715

RESUMEN

Apolipoprotein E (ApoE) gene polymorphisms are thought to be the most important genetic risk factor in the pathogenesis of late onset and sporadic Alzheimer's disease (AD). Moreover, interleukin-1α (IL-1α) is found to be associated with the pathogenesis of AD. In this research, ∊2, ∊3, and ∊4 polymorphisms of ApoE gene and C889T polymorphism of IL-1α gene were genotyped in patients with AD and controls. Genotyping was performed by real-time polymerase chain reaction. ∊3/∊3 and ∊3/∊4 genotype frequencies were significantly higher in control and case groups, respectively. While ∊3 allele frequencies were significantly higher in the control group, ∊2 and ∊4 allele frequencies were significantly higher among the cases with AD. No difference was found between the groups according to C889T polymorphism of IL-1α. In conclusion, we demonstrated that there was a strong association between ApoE ∊4 allele and AD, while there was no relation with IL-1α C889T polymorphisms for this study.


Asunto(s)
Enfermedad de Alzheimer/genética , Apolipoproteína E4/genética , Interleucina-1alfa/genética , Anciano , Apolipoproteína E2/genética , Apolipoproteína E3/genética , Humanos , Polimorfismo Genético , Turquía
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