Genetics & Molecular Biology

Novel players [Non-coding RNAs] in β cell and type 1 diabetes

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Type 1 diabetes (T1D) is a chronic immune-mediated disease resulting from selective destruction of insulin-producing pancreatic islet β cells. A complex interplay between several environmental and genetic risk factors contributes to the onset of T1D. Long non-coding RNA are a sub-class within non-coding RNA.Recent study show  more than 50 genomic risk loci have been identified for T1D.50% of the genetic risk for T1D is known to reside within the human leukocyte antigen region, other non-HLA disease susceptibility loci have been identified based on their direct influence on the risk non-coding variants affecting regulatory elements have the potential to perturb chromatin folding leading to mis-expression of the target gene. These recent facts suggest that the regulatory landscape of human genome plays an important role in pathology of a disease and newer approaches are needed to identify putative regulatory risk variants affecting gene regulation and immune function.

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Mutational analysis of genes in osteogenesis imperfect patient

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Osteogenesis imperfect (OI) is a group of genetic disorders that mainly affect the bones. The term “ontogenesis imperfecta” means imperfect bone formation. Osteogenesis imperfecta is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. The genetics of the disorder reflect the complexity of the OI phenotype range. Up to 21 different genes have been associated with occurrence of OI.Studies have shown that the primary cause of OI are mutations in the COL1A1/2 genes, which code procollagen type I α1 and α2 chains.

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Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan

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Consanguineous mating and inbreeding have been a subject of human biological inquiry since George Darwin, himself the son of a marriage between Charles Darwin and his cousin Emma Wedgewood , who investigated the relative academic and athletic performance of people from consanguineous and non-consanguineous marriages. Among the European populations the consanguinity rates are generally less than 0.5%, while in North Africa, Saudi Arabia and Southern and Western Asian populations 22–55%. Consanguinity occurs in all countries of the Middle East; however, the prevalence varies significantly, ranging from 10.6% to 67.7%.

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Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations

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Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina. It may occur as unilateral, bilateral or rarely as multicentric retinoblastoma, including pineal or suprasellar tumors. Being the retinoblastoma a hereditary cancer, identification of the causative mutation is important for risk prediction in the family members. An early detection of tumor is critical for survival and eye preservation. Screening for RB1 mutations is important for early tumor detection, critical for survival and eye preservation.

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Chemo Radiation Therapy in Unresectable Glioblastoma Patients in Relation to MGMT Promoter

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Around 14.8 per 100,000 Malignant brain tumors persons per year worldwide and Glioblastoma Multiforme is the most common parenchymal brain tumor. The optimal therapy for Glioblastoma Multiforme constitutes of maximal safe resection followed by adjunctive concurrent radiation and chemotherapy with Temozolomide. In certain cases safe maximal resection is not practically amenable. The methylation of the MGMT promoter is being used as a prognostic and predictive factor for the GBM response to TMZ therapy. The DNA-repair protein AGT is encoded by the gene O6- Methylguanine-DNA-methyltransferase. Genomic DNA was  also isolated from 10 μM thick paraffin using Puregene kit. In present study, Researcher  of GBM in Saudi patients who underwent tumor biopsy followed by radiation therapy with or without chemotherapy based on the MGMT promoter methylation status. Present studies show that the MGMT methylation has significantly improved the survival rate in Saudi patients with unresectable GBM who received concomitant radiation therapy and TMZ. However, MGMT methylation status did not impact the response to radiation therapy.

 

 

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Impaired Epigenetic Glucose fasting in the Old Order Amish

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Type 2 Diabetes (T2D) is a common chronic disease with substantial disease burden and economic impact need of pre-clinical markers of disease are lacking to enable early detection. Such markers would potentially have the greatest impact on disease progression by allowing targeted early interventions. Epigenetic changes have emerged as playing a significant role in T2D development and progression. Epigenome-Wide Association Study found the significant hypo methylation in the FTO gene within T2D patients compared to healthy controls using pancreatic islets from 15 T2D patients and 34 controls, significant differential methylation levels were identified in several genes including some well-known diabetes related genes like TCF7L2 and KCNQ1 recent studies suggest that the DNA methylation signatures may serve as biomarkers for early detection of increased T2D risk.

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Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD

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Thoracic aortic aneurysms (TAA) and aortic dissections (TAAD) are responsible for 15,000 deaths in the United States annually . TAA and TAAD may be divided into two broad categories: syndromic (associated with extra-aortic abnormalities) and non-syndromic (associated with manifestations restricted to the aorta). Nonsyndromic Aortic Aneurysms are further sub-divided into Familial Thoracic AorticAneurysms/Dissections (FTAA/FTAAD) – where more than one person in the family is affected and sporadic TAA where only a single person in the family is known to have an aneurysm. FTAAs typically present earlier in life, have a higher annual growth rate then sporadic aneurysms, and do not demonstrate association with traditional risk factors for aortic disease such as coronary artery disease.

For more: https://www.scitechnol.com/single-amino-acid-deletion-in-myh-segregating-in-a-family-with-taad-T2hc.php?article_id=2614

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