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Alternative start codon selection shapes mitochondrial function and rare human diseases.

Jimmy Ly1, Matteo Di Bernardo1, Yi Fei Tao1

  • 1Whitehead Institute for Biomedical Research, Cambridge, MA, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.

Molecular Cell
|November 8, 2025
PubMed
Summary
This summary is machine-generated.

Alternative start codon selection creates dual-localized proteins vital for cell and mitochondrial function. This process is implicated in rare genetic diseases, offering new insights into disease mechanisms.

Keywords:
TRNT1alternative N-terminal isoformsalternative translationmitochondriaproteomic diversityrare diseasesstart codon selectiontranslation initiation

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Area of Science:

  • Molecular Biology
  • Genetics
  • Evolutionary Biology

Background:

  • Rare genetic diseases impact millions, often affecting mitochondria.
  • Mitochondria, crucial organelles, perform vital cellular functions.
  • Alternative start codon selection generates protein isoforms with diverse localizations.

Purpose of the Study:

  • To investigate the role of alternative translation in generating dual-localized proteins.
  • To explore the evolutionary origins of these isoforms.
  • To identify connections between alternative translation and rare genetic diseases.

Main Methods:

  • Analysis of N-terminal protein isoforms.
  • Identification of differentially localized isoform pairs.
  • Examination of rare disease alleles affecting alternative protein variants.

Main Results:

  • Hundreds of differentially localized protein isoforms were identified.
  • Dual-localized isoforms essential for mitochondrial and host cell function were discovered.
  • Dozens of rare disease alleles impacting these isoforms were found, termed isoform-selective alleles (ISAs).

Conclusions:

  • Alternative translation plays a significant role in protein localization and function.
  • Dual-localized isoforms evolved alongside mitochondria.
  • Isoform-selective alleles contribute to the molecular and clinical diversity of rare genetic diseases.