Medical Bulletin 19/December/2022
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Here are the top medical news for the day:
New method with implications for treatment of Fukuyama muscular dystrophy
FCMD is caused by a genetic abnormality in the "fukutin" (FKTN) gene. Researchers from Japan led by Dr. Mariko Taniguchi-Ikeda, an Associate Professor in the Department of Clinical Genetics at Fujita Health University Hospital, were recently able to overcome this defect in the FKTN gene and restore its normal biological function. Using the experimental technique called exon skipping by antisense oligonucleotides the team corrected a mistake in the FKTN gene that blocks the chemical glycosylation of a biologically important protein. To this end, the team designed specific antisense oligonucleotides-small pieces of DNA or RNA that can bind to specific RNA molecules. The researchers then conducted experiments on patient-derived cells using these antisense oligonucleotides to validate their hypothesis.
Reference:
Dr. Mariko Taniguchi-Ikeda et al,Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant, Human Molecular Genetics, DOI:10.1093/hmg/ddac286
Dementia risk can be predicted by patterns of lifespan weight gain/loss
Researchers from Boston University Chobanian & Avedisian School of Medicine and Chinese Academy of Medical Sciences & Peking Union Medical College, have found that different patterns of BMI changes over one's life course may be an indicator of a person's risk for dementia.
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