Evaluation of mRNA expression level of the ATP synthase membrane subunit c locus 1 (ATP5G1) gene in patients with schizophrenia.

BACKGROUND: Schizophrenia is a serious, complex mental disorder. The impairment of oxidative phosphorylation has a detrimental consequence on CNS function. Different ATP synthase subunits have been involved in the pathological process of various neurodegenerative disorders. Our goal was to evaluate the mRNA expression level of the ATP synthase membrane subunit c locus 1 (ATP5G1, also named ATP5MC1) gene in patients with schizophrenia. METHODS: Determination of the expression levels of ATP5G1 in plasma and peripheral blood mononuclear cells (PBMCs) were performed by real-time PCR in 90 controls and 90 patients with schizophrenia. RESULTS: Patients had significantly decreased ATP5G1 mRNA expression levels in both plasma and PBMCs compared to controls. The receiver operating characteristic curve was applied to detect a cut-off value of ATP5G1 expression in plasma and PBMCs. The ATP5G1 relative expression in PBMCs had better performance with a cut-off value ≤ 21 (AUC = 0.892, P < 0.001), sensitivity of 94.44%, and specificity of 72.22% in discriminating between schizophrenic patients. ATP5G1 expression in PBMCs was an independent predictor in schizophrenia. CONCLUSION: This study revealed a down-regulation of ATP5G1 expression in schizophrenia, precisely expression in PBMCs. That might give insight into the role of ATP5G1 gene in the pathogenesis of schizophrenia.

CD93 has a crucial role in pathogenesis of psoriasis.

BACKGROUND: Psoriasis is a chronic, immune-related disorder; inflammation, higher rate of epidermal proliferation, and angiogenesis are the main pathognomonic features. Cluster of differentiation 93 (CD93), an angiogenic element, plays a role in cell adhesion regulation and has a putative function in inflammation. OBJECTIVE: To assess CD93 immunohistochemical expression in psoriatic skin and the association of CD93 single nucleotide polymorphisms (SNPs) rs2749817 to disease pathogenesis and severity. METHODS: This case-control study was done on 50 patients with psoriasis vulgaris beside 50 age- and sex-matched healthy controls. Assessment of psoriasis severity was done by Psoriasis Area and Severity Index (PASI) score. 3 mm punch skin biopsies were taken from every participant, and hematoxylin and eosin staining and immunohistochemical staining for CD93 antibody were done. Assessment of CD93 rs2749817 gene polymorphism by the TaqMan allelic discrimination assay technique (real-time PCR) was done. RESULTS: Immunohistochemical expression of CD93 showed membrano-cytoplasmic localization in both endothelial and inflammatory cells of cases and controls with significant more positivity in dermal endothelial and inflammatory cells of cases than controls (p = 0.001 and 0.014 respectively). Strong intensity was present in 18 of cases endothelial cells and 24 inflammatory cells with absence in controls (p =  0.001 for both) with significantly higher H-score and higher percent of positive cells (p  =  0.001 for both). The TC genotype was lower in patients compared to control (p-value = 0.006) and CC genotype which was present only in cases (p-value = 0.021). CONCLUSION: Cluster of differentiation 93 has an essential role in psoriasis and an encouraging future therapy for psoriasis.

Evaluation of serum and urinary orsomucoid protein A in psoriatic patients and their relation to severity of disease.

BACKGROUND: Orsomucoid protein A (ORM) is a major acute-phase protein. Serum ORM (se-ORM) protein A elevates in infections, malignancies, and autoimmune diseases. Urinary ORM (u-ORM) protein A is more accurate and less invasive marker of inflammation. Elevated u-ORM was associated with pathomechanism factors related to psoriasis such as endothelial dysfunction; however, the clinical significance of it has not been explored yet. AIM: To evaluate se-ORM/u-ORM protein A and urinary orsomucoid protein A/urinary creatinine (u-ORM/u-CREAT) in patient with psoriasis and their relations to severity of the disease. METHODS: This case-control study was conducted at Dermatology and Andrology Department; 35 psoriasis patients and 35 age- and sex-matched healthy controls were included. They were subjected to history taking and general and dermatological examination. Psoriasis severity was assessed by Psoriasis Area and Severity Index (PASI) score. Measurement of se-ORM/u-ORM protein A using ELISA and u-ORM/u-CREAT using colorimetric method. RESULTS: Highly significant difference between psoriasis patients and controls regarding u-ORM protein A level (p value = 0.01). It was also higher in severe cases than moderate and mild ones and higher in moderate than mild cases (p value 0.001, 0.001, and 0.004, respectively). There were significantly higher u-ORM/u-CREAT (p Ë‚ 0.001) levels in psoriasis patients than in controls. Also, significantly higher U-ORM/u-CREAT levels were found in severe psoriasis cases than in mild and moderate cases (p = 0.003 and 0.006, respectively). While the se-ORM levels showed no significant differences between the studied groups. CONCLUSION: u-ORM/u-CREAT is a highly sensitive, easily available, and new inflammatory biomarker of psoriasis which correlates to the disease severity.

Serum lipocalin-2 levels are decreased in patients with leprosy.

Background Leprosy is an infectious disease caused by Mycobacterium leprae affecting the skin, peripheral nerves and mucosae. Lipocalin-2 is a key component of the immune system's antimicrobial defence - it prevents iron uptake by binding and sequestering iron-scavenging siderophores and thus inhibits bacterial growth. Aim We evaluated serum lipocalin-2 levels in leprosy patients and its relationship to the pathogenesis and prognosis of the disease. Materials and methods In this case-control study, serum lipocalin-2 levels were measured by ELISA in 20 patients with leprosy and 20 healthy controls. Results Serum levels of lipocalin-2 were significantly reduced (P < 0.001) in leprosy patients as compared to controls. The levels were significantly higher (P < 0.014) in patients with multibacillary leprosy than in those with paucibacillary leprosy. Although the levels of lipocalin-2 were higher in patients with multiple nerve involvement as compared to those with involvement of 1 or 2 nerves, the results were not statistically significant. Limitation of the study The small sample size and the lack of different ethnic groups in the study were the major limitations of this study. Conclusion The lower lipocalin-2 concentrations in leprosy patients point to the importance of the protective functions of lipocalin-2. The elevated levels of lipocalin-2 observed in leprosy patients with neural involvement may be related to the reported neurodegenerative role of lipocalin-2.

Measuring the serum level of retinol-binding protein can enhance the treatment of recalcitrant warts.

BACKGROUND: Warts are common benign (60%-65%) self-limited tumors of the epidermis caused by human papillomaviruses (HPVs). However, some warts fail to resolve despite of different treatments and become recalcitrant. Vitamin A has antiproliferative and antikeratinizing properties by which the disruption of HPV replication can be occurred. Concentrations of retinol-binding protein (RBP) and retinol in the circulation highly correlate with each others. AIM: To assess the serum level of RBP in patients with resistant warts to evaluate the possible role of retinol in the disease pathogenesis. PATIENTS: This case-control study included 30 patients with resistant cutaneous warts (defined as failure of cure after conventional treatment as 12 weeks of salicylic acid application, 4 or more cycles of cryotherapy or electrocautery and/or other physical treatment modalities) and 30 age- and sex-matched healthy controls. RBP level in the serum was measured by ELISA. RESULTS: There was a significant difference between cases and controls regarding the level of serum RBP (P = .001). However, serum RBP level did not differ significantly regarding sociodemographic or clinical data (P > .05 each). RBP is a good biomarker for significant early detection and discrimination between cases and controls (P = .001) at a cutoff point < 563.3 mg/l with sensitivity (93%) and specificity (80%). CONCLUSION: Low serum RBP level in our studied patients may suggest an important role of retinol in the resistant warts pathogenesis. Thus measuring serum RBP will help to identify patients who are going to have resistant warts in the future.

Association of stem cell factor gene expression with severity and atopic state in patients with bronchial asthma.

BACKGROUND: Bronchial asthma is a chronic inflammatory and remodeling disorder of the airways, in which many cells, cellular elements, and cytokines play important roles. Stem cell factor (SCF) may contribute to the inflammatory changes occurring in asthma. We aimed to show the expression of SCF gene in patients with asthma as a means of diagnosis and its association with severity and atopic state in these patients. METHODS: This study was carried out on 80 subjects, 50 asthmatic patients and 30 age and gender matched healthy control persons. They were subjected to full history taking, general and local chest examination, spirometric measurements (pre and post broncodilators) using a spirometer, serum IgE, and real time PCR for assessment of SCF mRNA expression. RESULTS: This study showed significant difference between the studied groups regarding pulmonary function tests (P < 0.001). Asthmatic patients had significant higher SCF expression compared to control (P < 0.001), also atopic patients vs non atopic (P = 0.03) and severe asthmatic patients vs mild ones (P < 0.001). SCF expression at cut off point (0.528) is sufficient to discriminate asthmatic patients from control while at cut off point (1.84) for discrimination of atopic patients from non-atopic patients and at cut off point (1.395) for discrimination of severe asthmatic patients from mild ones. A significant negative correlation between SCF expression and inhaled steroid while significant positive correlation with serum IgE was found. CONCLUSION: Measuring SCF mRNA expression can be used as an efficient marker for evaluation of atopy and detection of severity of bronchial asthma.