Molecular Genetics and Epidemiology of Vitiligo: A Minireview

Background and aims: Vitiligo is an acquired, idiopathic, and common depigmentation disorder of the skin that affects people of all ages and both sexes equally worldwide. Although etiology of the disease is unknown, there are theories such as environment and genetic factors. Methods: In this article, we collected and summarized the appropriate manuscripts regarding the epidemiology and genetics using the terms vitiligo and genetic epidemiology in PubMed and Google Scholar. Results: Studies showed the highest prevalence of disease in African countries, but with regard to the distribution of disease in different areas, environmental factors were as important as other causes of vitiligo, and 3 genes of FOXP3, XBP1 and TSLP had the most association with the disease. Conclusion: It seems that recognition of the genetic basis of vitiligo will supply new insight into the therapies for it. Therefore, more genetic studies are needed to discover the genes and causes linked to clinical aspects of this disease

Testosterone Level and Coronary Artery Disease in Iranian Men; a Systematic Review

Coronary artery disease (CAD) is among the most common cardiovascular diseases (CVDs), caused by the formation of plaques of lipids, calcium, and inflammatory cells. In Iran, CAD is responsible for about 50% of all deaths per year. There is also a probability of the role of androgens deficiency in CAD in men. We aimed to systematically review all the related original studies to achieve an overall insight into the associations of testosterone and CAD in Iranian men.  MedLine, Web of Science, Scopus, and Google scholar databases were searched from inception to January 2021. All types of studies on Iranian men older than 40 years of age, reporting results of comparing testosterone in normal individuals and those with CAD were included. The main findings of the articles were compared to achieve an overall statement. Ultimately, six studies were included. Most (66.7%) had directly stated that lower levels of testosterone are associated with CAD or the level of testosterone is lower in patients with proven CAD. Among them, in 3 (50%) studies, the mean age of the participants had no significant difference between patients with CAD and the normal group. It is clear that low testosterone level is associated with increased risk of cardiovascular events but it is not definitely determined whether it is independent of age in Iranian men.  Further well-designed studies are needed to clearly exclude all confounding variables including age and show the net effect of testosterone on CAD

Molecular Genetics and Epidemiology of Vitiligo: A Minireview

Background and aims: Vitiligo is an acquired, idiopathic, and common depigmentation disorder of the skin that affects people of all ages and both sexes equally worldwide. Although etiology of the disease is unknown, there are theories such as environment and genetic factors. Methods: In this article, we collected and summarized the appropriate manuscripts regarding the epidemiology and genetics using the terms vitiligo and genetic epidemiology in PubMed and Google Scholar. Results: Studies showed the highest prevalence of disease in African countries, but with regard to the distribution of disease in different areas, environmental factors were as important as other causes of vitiligo, and 3 genes of FOXP3, XBP1 and TSLP had the most association with the disease. Conclusion: It seems that recognition of the genetic basis of vitiligo will supply new insight into the therapies for it. Therefore, more genetic studies are needed to discover the genes and causes linked to clinical aspects of this disease

Hearing loss: A review on molecular genetics and epidemiologic aspects

Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct. The present study was performed to briefly explain the genetics, molecular biology and epidemiology of HL in Middle East especially in Iran. Methods: An intense an comprehensive literature search was prformed through heading journals in the field. All data was organized using Mendeley software and incorporated to the text as required. Results: While the etiology of 25 of HL cases remains indistinct, it is estimated that at least 50 of pre lingual HL cases have a genetic cause. About 70 of genetic HL cases are non Syndromic (NSHL) without anomaly, whereas the remaining 30 are Syndromic. Autosomal recessive non-syndromic hearing loss forms (ARNSHL) are the severest forms of congenital HL with defect in cochlea. In addition to X-linked (DFNX), autosomal dominant (DFNA), autosomal recessive (DFNB) and Y-linked (DFNY) inheritance patterns, HL can be inherited through mitochondrial genes including MT-RNR1 and MT-TS. At least 120 genes have been reported to be associated with HL. Among them, mutations in connexin 26 (GJB2) have been shown to play a very important role in developing ARSNSHL in many populations depending on geographical location and ethnicity. In Caucasians and Spainish/Italian populations, 50 and 79 of HL cases have respectively been reported to be occurred due to mutations in GJB2 gene. Conclusion: In the Middle East, the prevalence seems different as an average of 14-20 of the HL in several region of Iran is due to mutation in GJB2 gene. Alternatively similar studies showed the prevalence of GJB2 mutations around 25 and 6.1 in Turkey and Pakistani populations respectively

The role of peroxisome proliferator-activated receptor-coactivator-1 gene in skin aging

Skin aging is a continuous process that exhibits fine and deep wrinkles, thin and transparent skin, loss of underlying fat, dry skin and itch, following decreased collagen and elastin synthesis. Both extrinsic and intrinsic agents are considered in the pathogenesis on skin aging. Extrinsic factors such as sun exposure, windy and dry weather, nutrition, and lifestyle may induce premature aging, toxic-free radicals, and reactive oxygen species due to decreasing normal function of mitochondria which play the major intrinsic factors in premature skin aging. One of the major genetic factors in mitochondrial function is peroxisome proliferator-activated receptor-coactivator-1 (PGC-1) gene. This factor could delay skin aging by increasing the mitochondrial biogenesis and replication and oxidative phosphorylation and so may induce free radical scavenging. This review is focused on intrinsic skin aging and the role of PGC-1 protein in decreasing effect of aging causes

Consumer attitudes toward new pasta products in Iran market: A qualitative and quantitative study

Developed food production lines recently have built factories for novel products to find a position in the market faster, although innovation is still expensive and risky. This study focuses on con-tributors who persuade consumers to purchase new pasta products in Tehran, and tries to determine the correlation among the criteria. This is conducted from the market experts’ view points along with a blend of grounded theory and DEMATEL. The results indicate that quality, price, packag-ing, promotion, phantasm and place parameters enhance new pasta pictures on customers’ buying decision making. According to experts, quality and price are the most influential factors and promo-tion and phantasm are completely ineffective. In addition, cultural parameters, especially local reci-pes as well as customers’ palate are important in this process

Evolution of transgenic L.infantum expressing mLLO‐BAX‐SMAC in the infected macrophages apoptosis in vitro and in vivo

Background: Leishmaniasis is an important infectious disease that develops because of escaping parasite from the host immune system or preventing host macrophages apoptosis. Recently, the development of transgenic methods and the parasite genome manipulation has provided many advantages. So, in this study, the effect of the transgenic Leishmania infantum expressing mLLO-BAX-SMAC proteins was examined in accelerating host cell apoptosis. Method: The entire coding sequence of designed codon-optimized mLLO-Bax-Smac was cloned in the pLexyNeo2 vector and integrated downstream of the 18srRNA locus of L. infantum genome by homologous recombination. Next, the expression of mLLO-BAX- SMAC fusion protein was evaluated by the Western blotting technique and the pathogenesis of transgenic parasite was surveyed in vitro and in vivo. Results: The results of PCR and Western blot confirmed proper integration and expression of mLLO-Bax-Smac sequence into the L. infantum 18srRNA locus. Flow cytometry showed accelerating apoptosis of transgenic Leishmania-infected macrophages compared to wild-type parasite. Also, transgenic parasites were less virulent as a fewer parasitic burden was found in the spleen and liver of transgenic-infected mice compared to the control. Conclusion: The data suggested that the transgenic L. infantum expressing BAX-SMAC can be used as an experimental model for developing vaccination against leishmaniasis. Keywords: Apoptosis; Electroporation; Homologous recombination; Leishmaniasis; Transgenic

Functional analysis of recombinant codon-optimized bovine neutrophil β-defensin

Defensins are cationic antimicrobial peptides with a broad range of activities against bacteria and fungi. In the present study, the entire coding sequence of codon-optimized Bovine Neutrophil β-Defensin 2 (BNBD2) was designed and placed upstream of Trx coding sequence into the pET-48b (+) vector. Furthermore, the codon-optimized pelB signal sequences were also added to the upstream of BNBD2 for periplasmic localization. The periplasmic sorting of recombinant β-Defensin 2 was evaluated by osmotic shock and SDS–PAGE on the released proteins. Moreover, the expression of BNBD2-Trx fusion protein was confirmed by the Western blotting technique. Next, the purification of recombinant protein was achieved by Ni++ affinity chromatography. BNBD2 was also separated from Trx by chemical cleavage with formic acid. Finally, both of the antibacterial and antifungal activities of the purified protein were examined. Overall, the results indicated successful periplasmic production of BNBD2 protein, which showed antifungal activity against some of Aspergillus species as well as the antibacterial activity, expressed as successfully suppressed growth of Escherichia coli and Staphylococcus aureus

The role of Bax in the apoptosis of Leishmania-infected macrophages

Background: Leishmania is a protozoan parasite that nests in macrophages and is responsible for the Leishmaniasis disease. In spite of different defense pathways, last strategy of macrophage for killing parasite is apoptosis process. By permeableizing the mitochondrial outer membrane (MOM). As breaching MOM releases apoptogenic factors like cytochrome-c which activate caspases that result in the destruction of the cell. In this review, we summarized the appropriate manuscripts regarding the bax includes, its different types and the effect of bax on the apoptosis of Leishmania and parasite-infected macrophages. Methods: Information about the role of BAX in the apoptosis of parasite-infected macrophage of recent articles were surveyed by searching computerized bibliographic database PubMed and Google Scholar entering the keywords BAX and leishmaniasis. Results: The common studies revealed Leishmania use different survival strategies for inhibiting macrophage apoptosis. As Leishmania by preventing homooligomerization or upregulating the anti-apoptotic molecule Bcl-2 can prohibits proteins of host-cell apoptosis such as Bax that is required for mitochondrial permeabilisation during apoptosis. Conclusion: With regard to the supportive role of bax in apoptosis and the preventive role of Leishmania in its function, it seems that expression of bax gene in parasite by technologies like transgenic or down regulating of anti-apoptotic molecule Bcl-2 by miRNA could be prompted the apoptosis process of infected-macrophages and inhibited extensive spread of Leishmania and the resulting lesions

Effect of transgenic Leishmania major expressing mLLO-Bax-Smac fusion gene in the apoptosis of the infected macrophages

Objective(s): Leishmaniasis is a complex infection against which no confirmed vaccine has been reported so far. Transgenic expression of proteins involved in macrophage apoptosis-like BAX through the parasite itself accelerates infected macrophage apoptosis and prevents Leishmania differentiation. So, in the present research, the impact of the transgenic Leishmania major including mLLO-BAX-SMAC proapoptotic proteins was assayed in macrophage apoptosis acceleration. Materials and Methods: The coding sequence mLLO-Bax-Smac was designed and integrated into the pLexyNeo2 plasmid. The designed sequence was inserted under the 18srRNA locus into the L. major genome using homologous recombination. Then, mLLO-BAX-SMAC expression was studied using the Western blot, and the transgenic parasite pathogenesis was investigated compared with wild-type L. major in vitro and also in vivo. Results: Western blot and PCR results approved mLLO-BAX-SMAC expression and proper integration of the mLLO-Bax-Smac fragment under the 18srRNA locus of L. major, respectively. The flow cytometry results revealed faster apoptosis of transgenic Leishmania-infected macrophages compared with wildtype parasite-infected macrophages. Also, the mild lesion with the less parasitic burden of the spleen was observed only in transgenic Leishmania-infected mice. The delayed progression of leishmaniasis was obtained in transgenic strain-injected mice after challenging with wild-type Leishmania. Conclusion: This study recommended transgenic L. major including mLLO-BAX-SMAC construct as a pilot model for providing a protective vaccine against leishmaniasis