A new study, published today in the BMJ and led by researchers from the University of Cambridge, reports new disease genes and makes genetic diagnosis available for more patients. The project involved 319 families with suspected mitochondrial disease recruited through the 100,000 Genomes Project which was set up to embed genomic testing.
In total, 345 participants—aged 0 to 92 with a median age of 25 years—had their whole genome sequenced. Through different analyses, the researchers found that they could make a definite or probable genetic diagnosis for 98 families (31%). Standard tests, which are often more invasive, failed to reach these diagnoses. Six possible diagnoses (2% of the 98 families) were made. A total of 95 different genes were implicated.
Surprisingly, 62.5% of the diagnoses were actually non-mitochondrial disorders, with some having specific treatments. This happened because so many different diseases resemble mitochondrial disorders, making it very difficult to know which are which.
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The researchers made 37.5% of their diagnoses in genes known to cause mitochondrial disease. These diagnoses were nearly all unique to a particular participant's family, reflecting the genetic diversity found in these disorders. The impairment of mitochondrial function tends to affect tissues with high energy demand such as the brain, the peripheral nerves, the eye, the heart, and the peripheral muscles. The study offers a new resource for the discovery of future mitochondrial disease genes.