2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The importance of mitochondrial disease testing in young adults with new onset sensorineural hearing loss

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A study conducted by the Mayo Clinic has found that sensorineural hearing loss (SNHL) can precede the diagnosis of mitochondrial disease (MD). The study observed a cohort of individuals with confirmed MD diagnoses and found that over one-third of them experienced SNHL on average more than a decade before being diagnosed with MD. The audiometric profile of these individuals showed mild to moderate SNHL at lower frequencies and moderate SNHL at 2 kHz and higher frequencies. The severity of hearing loss varied among individuals.<br /><br />The study also examined the genetic variants associated with MD in the cohort. The majority of patients had missense variants in the mitochondrial DNA (mtDNA), while some had deletions or duplications in the mtDNA. A smaller portion of patients had missense variants in nuclear DNA (nDNA) genes. Overall, the genetic heterogeneity of MD was evident in the cohort.<br /><br />The researchers recommend considering comprehensive genetic testing, including the mitochondrial genome, as a first-tier test for individuals with hearing loss. They also propose that the distinctive audiometric profile seen in individuals with MD could aid in care planning and management.<br /><br />Early detection and diagnosis of MD are crucial for appropriate medical management and anticipatory care. MD is a heterogeneous condition that can present at any age with a range of symptoms. The study emphasizes the importance of identifying hearing loss as an early indicator of MD and calls for further research to explore the association between SNHL and mitochondrial disease.<br /><br />In conclusion, this study highlights the potential of hearing loss as an early indicator of mitochondrial disease. The cohort of individuals with MD showed a significant proportion experiencing SNHL prior to their MD diagnosis. Understanding the audiometric profile and genetic variants associated with MD can aid in timely diagnosis and care planning. Further research is needed to validate these findings and explore the relationship between SNHL and mitochondrial disease.

Asset Subtitle

Presenting Author - Alaa Koleilat, PhD; Co-Author - Gayla Poling, Ph.D.; Co-Author - Lisa A. Schimmenti, MD, FAAP, FACMG; Co-Author - Linda Hasadsri, MD, PhD, FACMG;

Meta Tag

Auditory System

Genetic Testing

Mitochondria

Co-Author Gayla Poling, Ph.D.

Co-Author Lisa A. Schimmenti, MD, FAAP, FACMG

Co-Author Linda Hasadsri, MD, PhD, FACMG

Presenting Author Alaa Koleilat, PhD

Keywords

sensorineural hearing loss

mitochondrial disease

diagnosis

cohort

audiometric profile

genetic variants

mitochondrial DNA

nuclear DNA

comprehensive genetic testing

early detection