Cell July 2024 PMID 38851187

The rate and nature of mitochondrial DNA mutations in human pedigrees.

Erla R Árnadóttir, Kristján H S Moore, Valdís B Guðmundsdóttir, S Sunna Ebenesersdóttir, Kamran Guity, Hákon Jónsson, Kári Stefánsson, Agnar Helgason

Mentions

106
Peak: 24 in Jun 2024
across 7 sources since Jun 2024

Extended reach

628,766
potential audience

Total likes

283

Video views

6,018

Mentions per month

Jun 2024 – Dec 2025

Where it's discussed

  • X / Twitter43 posts
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AI synopsis

What people are saying

The digital discussions reveal a generally positive and engaged attitude towards the article, with examples such as sharing the publication link, calling it 'important work,' and tagging it with scientific hashtags, which demonstrate both interest and perceived relevance. The tone and word choices suggest that the community views this research as impactful but not radically transformative, balancing enthusiasm with scientific respect.

AgreementModerate agreement

Most discussions acknowledge the significance and validity of the research, with some emphasizing its importance for understanding mutation mechanisms.

InterestHigh interest

Interest is high, as evidenced by phrases like 'important work,' 'sharing this,' and hashtags related to science and publications, indicating enthusiasm.

EngagementModerate engagement

Posts show moderate engagement, with some sharing summaries, expressing personal reactions, or highlighting the relevance of the findings.

ImpactModerate impact

The discussions convey a recognition that this research could influence future studies or medical understanding, suggesting a modest but meaningful impact.

Abstract in brief

  • The study analyzed mitochondrial DNA (mtDNA) mutations in over 64,000 Icelanders, identifying nearly 8,200 mutations based on extensive mother-child transmission data, allowing for detailed insights into mutation rates and their effects.
  • It found that hypermutability mainly occurs in the control region of mtDNA and can also affect some coding regions, with negative and prenatal selection playing roles in eliminating harmful mutations like those linked to diseases such as diabetes (3243AG) and deafness (1555AG).
  • The research suggests that the transmission of new mtDNA mutations is heavily influenced by a severe germline bottleneck, where only about 3 mitochondrial DNA molecules are effectively passed from mother to child, greatly impacting mutation inheritance.]

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In the latest issue! The rate and nature of mitochondrial DNA mutations in human pedigrees https://t.co/nQhvnzaZuD

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ミトコンドリアDNAに蓄積する変異のプロファイリングを行う為,11万強の母子ペアのミトコンドリアDNAを比較した論文. ORF上にもいくつかの変異が見つかった一方,致死的な変異は負の選択を受けている事を報告し,母性遺伝する際のボトルネックのサイズが3程度であると推察した. https://t.co/cPwuoaBf81

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sharing this important work just in case you missed it like I did

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Kourittenga, CEB de Andemtenga désire CEB de Tenkodogo.
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... Cell, 59, 18, (2429-2442.e4), (2024).https://doi.org/10.1016/j.devcel.2024.05.022 · Crossref. Xinglei Liu,; Lu Rao,; Weihong Qiu,; Florian ...

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Q.13-Gene mutation takes place in [A] Deoxyribonucleric acid [B ...
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