Vahid Omarmeli, Kai-Uwe Lewandrowski, Marjan Assefi, Hanieh Faizmahdavi, Alireza Sharafshah, Nasrin Mansouri
{"title":"A Novel Mutation (Lys31Arg) in the DMD Gene Impacts on Neuromuscular Dysfunctions Found by Whole Exome Sequencing and <i>In Silico</i> Analyses in an Iranian Family.","authors":"Vahid Omarmeli, Kai-Uwe Lewandrowski, Marjan Assefi, Hanieh Faizmahdavi, Alireza Sharafshah, Nasrin Mansouri","doi":"10.2174/0118746098280408240112112414","DOIUrl":"10.2174/0118746098280408240112112414","url":null,"abstract":"<p><strong>Background: </strong>Duchene Muscular Disorder (DMD) is a severe X-linked recessive neuromuscular disease. Previous reports predicted that one-third of cases with a fatal X-linked recessive disease will be caused by a novel mutation, and the mutation rate for DMD seems to be higher in males.</p><p><strong>Objective: </strong>A novel mutation in the DMD gene DMD (NM_004006.3):c.92A>G (p.Lys31Arg) is suggested for males because of their heterozygous mothers carrying the mutant alleles.</p><p><strong>Method: </strong>Whole Exome Sequencing (WES) was done for a 25-year-old female followed by the screening of the novel mutation in her parents and her brother by the Sanger sequencing technique. Some in silico analyses were run to find the putative alterations in wild-type and mutant structures by PolyPhen-2 and Mupro. Notably, SWISS-MODEL was performed to build a reliable model for the mutant allele based on the PDB ID: 1DXX structure. Also, superimposition was done by PyMol.</p><p><strong>Results: </strong>WES analysis revealed three novel mutations including DLD (exon13:c.G1382A:p. G461E), ABCA3 (exon12:c.G1404C:p.W468C), and DMD (exon2:c.A92G:p.K31R) in the case. Focusing on DMD mutation, Sanger sequencing of the patient's parents and brother indicated no mutant allele in her mother and brother but a mutant allele in her father as a hemizygous pattern. In silico analyses showed no considerable change regarding pathogenic impact.</p><p><strong>Conclusion: </strong>In conclusion, our findings revealed no pathogenic effect of the new mutation (K31R) of the DMD gene in an Iranian 25-year-old woman. Because of the DMD importance in preclinical diagnosis, these data may shed a light on the diagnosis of this mutation in future pregnancies.</p>","PeriodicalId":11008,"journal":{"name":"Current aging science","volume":" ","pages":"169-174"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139542156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammad Ail Morowatisharifabad, Mahdieh Hosseini Sharifabad, Marzieh Aboutorabi-Zarchi
{"title":"Prevalence and Related Factors of Dizziness Among Older Adults: A Cross-Sectional Study in Ardakan City, Iran.","authors":"Mohammad Ail Morowatisharifabad, Mahdieh Hosseini Sharifabad, Marzieh Aboutorabi-Zarchi","doi":"10.2174/0118746098277513240207070946","DOIUrl":"10.2174/0118746098277513240207070946","url":null,"abstract":"<p><strong>Background: </strong>Dizziness and balance disorders are directly related to aging in humans- Dizziness is one of the most important factors causing the burden of disability after the age of 65. Bearing in mind the increase in the elderly population in Iran and the world and the prevalence of dizziness in old age, early diagnosis of dizziness and determination of the factors affecting its severity facilitate its treatment and are effective in preventing its adverse consequences.</p><p><strong>Objective: </strong>To determine the prevalence of dizziness and its related factors among older adults in Ardakan city, Yazd province, Iran, in 2022.</p><p><strong>Methods: </strong>This cross-sectional study was conducted in four comprehensive health centers of Ardakan city with the participation of 260 elderly people aged ≥60 years, who were randomly included in the study. Data were collected using a series of questionnaires which were completed by interviewing the participants. The variables of this study included demographic information, information related to the dizziness status, diseases, medications, use of mobility aids, physical activity level, fear of falling, quality of life and depression.</p><p><strong>Results: </strong>The prevalence of dizziness among older adults of Ardakan city was 48.5%. In terms of the severity of dizziness, 38.8% had substantial dizziness, and 9.6% had mild dizziness. Dizziness was significantly related to physical activity (p<0.05), fear of falling (p <0.01), depression (p <0.05), history of falling (p <0.01), use of mobility aids (p <0.01), age (p<0.01), education level (p<0.01), gender (p <0.05) and diseases such as high blood pressure (p<0.05), hypothyroidism (p <0.01) and ear diseases(p <0.01). Also, elderly people with dizziness used significantly more medications such as sedatives (p<0.01), antihypertensive drugs (p <0.05) and cytotoxic drugs (p <0.01).</p><p><strong>Conclusion: </strong>About half of the older adults experience dizziness, and this problem is associated with depression, fear of falling, history of falling, low physical activity, age, female gender, ear diseases, high blood pressure, and hypothyroidism. In addition, the use of medications such as anti- hypertensives, sedatives and cytotoxic drugs is related to dizziness. Families with elderly people, doctors and healthcare workers need to be educated and pay more attention to the above.</p>","PeriodicalId":11008,"journal":{"name":"Current aging science","volume":" ","pages":"237-246"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anecdotal Evidence Elucidates the Aging Process.","authors":"Harold L Katcher","doi":"10.2174/1874609816666230707114520","DOIUrl":"10.2174/1874609816666230707114520","url":null,"abstract":"<p><p>Our group at Yuvan Research has conducted several experiments in recent years that have demonstrated the reversibility of aging through the use of a young plasma fraction, following a historical line of research that began with heterochronic parabiosis. However, a one-of-a-kind discovery, in the form of anecdotal evidence, has recently clarified many doubts about the nature of aging and rejuvenation, and the conclusions that can be drawn from this discovery allow us to form a relatively clear picture of the mechanics of the aging and rejuvenation processes.</p>","PeriodicalId":11008,"journal":{"name":"Current aging science","volume":" ","pages":"175-179"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10123076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neuroinflammatory Response and Redox-regulation Activity of Hyperoside in Manganese-induced Neurotoxicity Model of Wistar Rats.","authors":"Olalekan Bukunmi Ogunro, Oluwaseun Ruth Olasehinde","doi":"10.2174/0118746098277166231204103616","DOIUrl":"10.2174/0118746098277166231204103616","url":null,"abstract":"<p><strong>Background: </strong>Excessive manganese exposure can lead to neurotoxicity with detrimental effects on the brain. Neuroinflammatory responses and redox regulation play pivotal roles in this process. Exploring the impact of hyperoside in a Wistar rat model offers insights into potential neuroprotective strategies against manganese-induced neurotoxicity.</p><p><strong>Objective: </strong>The study investigated the neuroprotective efficacy of hyperoside isolated from the ethanol leaf extract of <i>Gongronema latifolium</i> (HELEGL), in the brain tissue of Wistar rats following 15 consecutive days of exposure to 30 mg/L of MnCl2.</p><p><strong>Methods: </strong>Control animals in Group 1 had access to regular drinking water, while animals in groups 2-4 were exposed to MnCl<sub>2</sub> in their drinking water. Groups 3 and 4 also received additional HELEGL at doses of 100 mg/kg and 200 mg/kg of body weight, respectively. In Group 5, HELEGL at a dose of 100 mg/kg of body weight was administered alone. Treatment with HELEGL commenced on day 8 via oral administration.</p><p><strong>Results: </strong>HELEGL effectively mitigated MnCl<sub>2</sub>-induced memory impairment, organ-body weight discrepancies, and fluid intake deficits. Exposure to MnCl<sub>2</sub> increased the activities or levels of various markers such as acyl peptide hydrolase, tumour necrosis factor-α, dipeptidyl peptidase IV, nitric oxide, IL-1β, prolyl oligopeptidase, caspase-3, myeloperoxidase, H<sub>2</sub>O<sub>2</sub>, and malondialdehyde, while it decreased the activities or levels of others, including AChE, BChE, DOPA, serotonin, epinephrine, norepinephrine, GST, GPx, CAT, SOD, GSH, and T-SH (p < 0.05). In contrast, HELEGL effectively counteracted the adverse effects of MnCl<sub>2</sub> by alleviating oxidative stress, inflammation, apoptosis, mitochondrial dysfunction, cognitive deficits, and bolstering the antioxidant status. Moreover, HELEGL restored the normal histoarchitecture of the brain, which had been distorted by MnCl<sub>2</sub>.</p><p><strong>Conclusion: </strong>In summary, HELEGL reversed the causative factors of neurodegenerative diseases induced by MnCl<sub>2</sub> exposure, suggesting its potential for further exploration as a prospective therapeutic agent in the management of Alzheimer's disease and related forms of dementia.</p>","PeriodicalId":11008,"journal":{"name":"Current aging science","volume":" ","pages":"220-236"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140157765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Therapeutic Approaches to Increase the Survival Rate of Cancer Patients\u0000in the Younger and Older Population","authors":"Tharrun Paul, Kanagaraj Palaniyandi, Dhanavathy Gnanasampanthapandian","doi":"10.2174/0118746098241507231127114248","DOIUrl":"https://doi.org/10.2174/0118746098241507231127114248","url":null,"abstract":"\u0000\u0000Various developments have been observed in the treatment of cancer patients, such as\u0000higher survival rates and better treatment outcomes. However, expecting similar outcomes in\u0000older patients remains a challenge. The main reason for this conclusion is the exclusion of older\u0000people from clinical trials for cancer drugs, as well as other factors, such as comorbidity, side\u0000effects, age-related frailties and their willingness to undergo multiple treatments. However, the\u0000discovery of new techniques and drug combinations has led to a significant improvement in the\u0000survival of the elderly population after the onset of the disease. On the other hand, cancer treatments have not become more complex for the younger population when compared to the older\u0000population, as the younger population tends to respond well to treatment trials and their physiological conditions are stable in response to treatments. In summary, this review correlates recent\u0000cancer treatment strategies and the corresponding responses and survival outcomes of older and\u0000younger patients.\u0000","PeriodicalId":11008,"journal":{"name":"Current aging science","volume":"42 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138592341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}