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In plain English, it’s a genetic disease that causes your mitochondria to not efficiently turn sugar and oxygen into energy, and therefore the cells do not work as they were designed to. If you recall the famous liner – the mitochondria is the powerhouse of the cell – then it’s easier to understand that there is a problem with the powerhouse.
Mitochondrial diseases can affect many parts of the body, including the brain, kidneys, muscles, heart, eyes, and especially the ears.
Researchers at the Children’s Hospital of Philadelphia (CHOP) and Lund University in Sweden have recently identified that hearing loss is one of the symptoms of Mitochondrial Disease. According to their published article in the journal of Molecular Genetics and Metabolism, they were able to determine some correspondences between the prevalence, severity, and timing of onset for hearing loss across different genetic subtypes of mitochondrial disease.
By examining the records of 193 patients with primary mitochondrial disease who seeked medical attention at CHOP, they were able to determine roughly 27% of patients were diagnosed with sensorineural hearing loss. The ones most affected by hearing loss was the subgroup where mitochondrial DNA had pathogenic variants, which is located in the DNA of the mitochondria itself. They found that in most cases, DNA were missing segments, or nuclear DNA gene pathogenic variants. The genetic defects or mutations were found to impact mitochondrial function, causing inefficacy in transforming sugar and oxygen into energy.
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