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Vici syndrome is a rare, severe genetic condition affecting multiple body parts, there is no cure. Most children with Vici syndrome die before they are 5. Researchers aim to identify existing medicines to restore mitochondrial function in nerve cells, potentially leading to effective treatments.
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Beneficiaries
Situation
Children with Vici syndrome experience various symptoms affecting almost any body part, including heart problems, delayed development, nervous system deterioration, seizures, and repeated infections due to immune system issues. This syndrome profoundly impacts quality of life, and no effective treatments exist, severely shortening children's lives. Vici syndrome is caused by faults in the EPG5 gene, which is crucial for cellular disposal of aging or damaged materials.
Solution
The research team found that mitochondria in Vici syndrome patient skin cells malfunction, revealing new treatment strategies. Researchers will study if faulty mitochondria cause nervous system deterioration and seizures. Lab experiments will examine the effects of the faulty EPG5 gene on nerve cells, focusing on mitochondrial function. They will test existing drugs to restore mitochondrial function, potentially benefiting Vici syndrome patients and others with similar conditions.