PubHawk
Ann Neurol May 2015 PMID 25652200

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Gráinne S Gorman, Andrew M Schaefer, Yi Ng, Nicholas Gomez, Emma L Blakely, Charlotte L Alston, Catherine Feeney, Rita Horvath, Patrick Yu-Wai-Man, Patrick F Chinnery, Robert W Taylor, Douglass M Turnbull, Robert McFarland

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Mentions

12
Peak: 3 in Jul 2025
across 4 sources since Feb 2016

Extended reach

553,915
potential audience

Total likes

157

Video views

551,412

Mentions per month

Feb 2016 – Oct 2025

Where it's discussed

  • News6 articles
  • X / Twitter2 posts
  • YouTube2 videos
  • Facebook2 posts

AI synopsis

What people are saying

The discussions reflect a positive reception, highlighting the high prevalence of mitochondrial disorders (e.g., 'Prevalence of mitochondrial disese is 1:500') and the excitement about new diagnostic tools like MitoPhen. The tone and focus on the implications of these findings suggest that the group views this research as impactful for future diagnosis and treatment approaches.

AgreementModerate agreement

Most discussions acknowledge the importance and relevance of the study, with some expressing enthusiasm about its implications.

InterestHigh interest

Participants demonstrate high curiosity, especially with mentions of new tools like MitoPhen and trending discussions on prevalence.

EngagementModerate engagement

Many posts include specific references to the study's findings and related presentations, showing active involvement.

ImpactModerate impact

The emphasis on the significant prevalence rates and tools for diagnosis suggests a recognition of the study's potential influence on research and healthcare.

Abstract in brief

  • The study found that the prevalence of mitochondrial disease caused by mitochondrial DNA (mtDNA) mutations is about 1 in 5000 people, and nuclear DNA mutations cause about 29 in 100,000 adults, making these conditions relatively common among inherited neurological disorders.
  • Advances in genetic testing have greatly improved our ability to diagnose these diseases by examining both mitochondrial and nuclear DNA, revealing that mutations in both types of DNA contribute to adult mitochondrial diseases.
  • Overall, the combined prevalence of adult mitochondrial disease from both DNA sources is approximately 1 in 4300 people, highlighting its significance for healthcare planning and the development of targeted treatments.
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Most liked on X and Bluesky
ANA Journals
@ANA_journals · X

"#Prevalence of nuclear and mitochondrial #DNA mutations related to adult #mitochondrial disease" is trending. Don't miss out! https://t.co/QYQ7ZqbNB3

Jun 27, 2022 · 2 likes · 1 share · 1,279 followers View post →
Konrad Platzer
@platzer_k · X

Next talk is by Thiloka Ratnaike, Cambridge on "MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease". #solveRD Prevalence of mitochondrial disese is 1:500

Apr 25, 2022 · 1,143 followers View post →

All mentions

ANA Journals
@ANA_journals · X

"#Prevalence of nuclear and mitochondrial #DNA mutations related to adult #mitochondrial disease" is trending. Don't miss out! https://t.co/QYQ7ZqbNB3

Jun 27, 2022 · 2 likes · 1 share · 1,279 followers View post →
Konrad Platzer
@platzer_k · X

Next talk is by Thiloka Ratnaike, Cambridge on "MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease". #solveRD Prevalence of mitochondrial disese is 1:500

Apr 25, 2022 · 1,143 followers View post →
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