GP126 Large deletions inDMDgene is the most prevalence mutation in russian children with duchenne muscular dystrophy

Abstract

also at 2 weeks from injury compared with healthy control children.Methods Whole blood was sampled from children with mild TBI within 24 hours of injury and at two weeks from injury and compared to healthy paediatric controls at baseline. RNA was isolated and cDNA was synthesized. Gene Expression of NLRP3 and IL1 b via rtPCR was recorded in 22 patients and 5 controls at baseline and 15 patients at 2 weeks. The Post Concussive Symptom Inventory was administered at 2 weeks. A change from pre-injury baseline was recorded.Results Inflammasome was upregulated via NLRP3 expression in children with TBI compared to controls across groups however this did not correlate with symptoms at 2 weeks. Higher IL-1b transcription levels at presentation were positively correlated by Pearson correlation (p = 0.029) with higher symptom scores at 2 weeks. Conclusion Inflammation is altered in TBI compared to controls The NLRP3 component of inflammasome while elevated does not correlate with symptom burden. IL=1 b gene transcription does. IL-1 b holds promise in predicting symptom burden following mTBI. Selective inhibition of systemic inflammation targeting the inflammasome may have a future immunomodulatory role as a target in treating mTBI.

Induced pluripotent stem cells from urine of Duchenne muscular dystrophy patients

“…Given the mutation specific nature of DMD studies on new therapies and drugs that are being used in other countries around the world, the results may not be fully relevant for the Pakistani population due to variations in our mutational profile and prevalence. 2,[27][28][29] It is important to generate patient-specific DMD iPSCs for our population for future use in diseasemodelling, drug testing, and regenerative therapy. 5,10 Thus, the first objective of this research was to isolate UDCs from urine of Pakistani DMD patients and the second was to characterize them.…”

“…Duchenne muscular dystrophy (DMD) is the most lethal and frequently occurring muscular dystrophy affecting humans (1 in 3,500–5,000 live born males worldwide) 1–3 . X‐linked recessive mutations in the Dystrophin gene result in a lack of the dystrophin protein in skeletal and cardiac muscles.…”

“…Duchenne muscular dystrophy (DMD) is the most lethal and frequently occurring muscular dystrophy affecting humans (1 in 3,500-5,000 live born males worldwide). [1][2][3] X-linked recessive mutations in the Dystrophin gene result in a lack of the dystrophin protein in skeletal and cardiac muscles. Progressive muscular weakness and degeneration occur, culminating in death by in the patients' 20s due to cardiac or respiratory muscle involvement.…”