One out of every 4,300 people suffers from mitochondrial diseases, which can cause progressive incurable diseases
Recently, a new study by British researchers has brought hope to patients who have not yet been diagnosed
Although previous studies based on small, highly selective cohorts have shown that WGS can identify mitochondrial diseases, this is the first time its effectiveness has been tested in the national healthcare system
The study involved 319 families with suspected mitochondrial diseases, with a total of 345 participants, ranging in age from 0 to 92 years old, with an average age of 25 years old, all of which were sequenced
Surprisingly, 62.
Professor Patrick Chinnery, Professor of the Mitochondrial Biology Research Group of the British Medical Research Council and the Department of Clinical Neurosciences at the University of Cambridge, said: "We recommend that whole genome sequencing should be provided as soon as possible before invasive tests such as muscle biopsy
Among the researchers' diagnosis results, 37.
Impaired mitochondrial function often affects tissues that require high energy, such as the brain, peripheral nerves, and heart
Chinnery said: "These patients are referred for suspected mitochondrial diseases, and traditional diagnostic tests are specifically for mitochondrial diseases
Chinnery said that diagnostic services in the UK are fragmented and unevenly distributed, which poses major challenges for patients with rare diseases and their families
Related research results: https://doi.
https://doi.
org/10.
1136/bmj-2021-066288
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