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The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses. | LitMetric

AI Article Synopsis

  • Families dealing with mitochondrial diseases often face long diagnostic processes and many do not receive a molecular diagnosis, prompting a study in Australia on the effectiveness of genomic sequencing.
  • The study involved 140 participants who underwent either exome + mitochondrial DNA or genome sequencing, yielding a 55% diagnostic rate with a majority of findings in nuclear genes.
  • Results indicated higher diagnostic rates for pediatric cases, particularly in children with higher modified Nijmegen criteria scores, while adult patients sometimes showed conditions not found in initial blood testing.

Article Abstract

Purpose: Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial Flagship, comprising clinicians, diagnostic, and research scientists, conducted a prospective national study to identify the diagnostic utility of singleton genomic sequencing using blood samples.

Methods: A total of 140 children and adults living with suspected MD were recruited using modified Nijmegen criteria (MNC) and randomized to either exome + mitochondrial DNA (mtDNA) sequencing or genome sequencing.

Results: Diagnostic yield was 55% (n = 77) with variants in nuclear (n = 37) and mtDNA (n = 18) MD genes, as well as phenocopy genes (n = 22). A nuclear gene etiology was identified in 77% of diagnoses, irrespective of disease onset. Diagnostic rates were higher in pediatric-onset (71%) than adult-onset (31%) cases and comparable in children with non-European (78%) vs European (67%) ancestry. For children, higher MNC scores correlated with increased diagnostic yield and fewer diagnoses in phenocopy genes. Additionally, 3 adult patients had a mtDNA deletion discovered in skeletal muscle that was not initially identified in blood.

Conclusion: Genomic sequencing from blood can simplify the diagnostic pathway for individuals living with suspected MD, especially those with childhood onset diseases and high MNC scores.

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Source
http://dx.doi.org/10.1016/j.gim.2024.101271DOI Listing

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