New research finds rare genetic encephalopathy
January 29, 2019 Source: Health News Network
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];A new study led by Australian scholars has found a rare genetic encephalopathy that can seriously harm a child's nervous system while causing mild fever or other illnesses. Currently, a total of 6 cases of children have been recorded worldwide, all of which have died rapidly after a fever or other symptoms.
Researchers recently published a paper in the British journal Brain, saying that genomic testing showed that all cases had recessive NAXD gene mutations. Mutations in the NAXD gene have devastating effects on key tissues such as the brain and heart, inducing neurodegenerative diseases and skin damage, and ultimately leading to premature death in children.
Nicole Van Bergen and others at the University of Melbourne in Australia, who participated in the study, explained that cells produce excess by-products during metabolism, and these by-products can cause damage to cells if they accumulate. To solve this problem, cells have evolved metabolic repair systems that use enzymes to repair or eliminate metabolic byproducts, while the NAXD gene encodes key enzymes necessary for repairing or eliminating cellular metabolites.
Studies have shown that in patients with NAXD mutations, the mitochondrial function of the cell-powered plant is impaired, and the efficiency of repairing or eliminating metabolic byproducts of the mutated NAXD gene is reduced.
The researchers also found that mutations in the NAXD gene induce the inferiority of the NAXD enzyme, ie, the activity of the NAXD enzyme decreases as the temperature increases. Carol Linst of the University of Luxembourg, who participated in the study, said: "This finding at least partly explains why patients have fever when they develop their disease."
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