Newly Improved Method and Composition for Treating Genetically Linked Diseases of the Eye
X-linked retinoschisis (XLRS) is an inherited ocular disease caused by mutations in the RS1 gene which results in the abnormal splitting of the retinal layers. It is the leading cause of macular degeneration in males, and approximately 1:15,000 individuals in the US are affected by this condition. XLRS causes progressive vision loss, and affected individuals are unable to perform simple daily activities such as reading, writing and driving. This condition can lead to vitreous hemorrhage and retinal detachment in up to 40% of patients – resulting in total blindness.A current treatment option includes a tissue-specific gene therapy approach based upon adeno-associated virus (AAV) mediated delivery of the full coding sequence for human RS1 gene to the retinal cells. This approach shows the need for more limited transduction and effective, efficient, and convenient method of administering gene therapy vectors to the eye. To improve transduction efficiency, inventors at the National Eye Institute (NEI) have developed a novel, non-invasive approach of applying electric current in combination with the gene therapy vector. This minimally invasive strategy significantly improves the transduction efficiency of AAV vectors in the mouse retina. This represents an improved method for restoring high levels of RS1 expression in the retina of XLRS patients.This invention is available for licensing and/or collaborative development partnerships.IC: NEINIH Ref. No.: E-164...
Publication date: Available online 26 February 2020Source: Meta GeneAuthor(s): Salma Begum Bhyan, YongKiat Wee, Mingyu Luo, Yining Liu, Min Zhao
ConclusionPanel ‐based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China.
ConclusionOur analysis provided strong evidence to indicate a causal relationship between WC and increased risk of CHD.
ConclusionNEAT1 upregulateIGF2 expression through absorbing miR ‐185‐5p to enhances the migration and invasion of colon cancer cells.
ConclusionOur results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA ‐seq.
Helicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Aging ‐associated risk factors should be considered. Future studies, related to aging andH. pylori infection with extragastric disease can help to provide vivid evidences. AbstractHelicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Elderly people tend to resist eradication treatment and worsening of infection can lead to several gastric and non ‐gastric pathologies. Aging‐associated cellular and molecular alteration can increase the ris...
ConclusionIn summary, the above results indicate thatXIST promotes colorectal cancer tumorigenesis by regulating miR ‐93‐5p/HIF ‐1A/AXL signaling pathway, which will supply a novel perspective to diagnose and treat colorectal cancer disease.
Publication date: Available online 26 February 2020Source: Urology Case ReportsAuthor(s): Tomoko Yonamine, Tadashi Kaname, Yasutsugu Chinen, Kouichi Tamashiro, Noritake Kosuge, Seiichi Saito
ConclusionChronic inflammation in the dorsolateral prostate of rats dosed with EB, T and E resulted in deregulated expression in a set of microRNAs whose target genes were related to tumor growth or abnormal proliferation. Our findings suggest the identified microRNAs and their target genes the potential use as biomarkers to predict prostate cancer development. Validation using human samples is warranted.
Discussion and conclusionsA schema showing the time from initiation of therapy at which specific antineoplastic agents can cause significant levels of genetic damage in conceptuses and live offspring was developed. The estimates and methods for computing the level of such risk from an individual patient's treatment regimen will enable patients and counselors to make informed decisions on the use of spermatozoa or continuation of a pregnancy.