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.
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.
Dementia is a growing global public health concern currently affecting 50 million people and is expected to rise dramatically to more than 150 million cases worldwide by 2050. Obesity, commonly measured by body mass index (BMI), continues to be a global epidemic and earlier studies suggested that obesity at midlife may lead to increased risk for dementia. But the association between BMI and the risk of dementia remains unclear.
Rhoda Au et al, BMI decline patterns and relation to dementia risk across four decades of follow-up in the Framingham Study, BOSTON UNIVERSITY SCHOOL OF MEDICINE,10.1002/alz.12839
Alzheimer’s disease could be treated by Brain stimulation
Deep brain stimulation (DBS) is a form of therapy that is already approved in Germany for treating neurological movement disorders such as Parkinson’s disease and dystonia, and neuropsychiatric diseases such as obsessive-compulsive disorder. Very thin electrodes are implanted in the patient’s brain and constantly deliver mild electrical pulses to a specific region. The electrodes remain in the brain permanently and are connected via wires that run under the skin to a pacemaker-like device implanted in the chest area. The device is used to adjust the strength and frequency of the electrical stimulation.
*Ríos AS et al. Optimal Stimulation Sites and Networks for Deep Brain Stimulation of the Fornix in Alzheimer’s Disease. Nat Comm 2022 Dec 14. doi: 10.1038/s41467-022-34510-3