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SCIENCE

The Claim

Leucine zipper EF-hand-containing transmembrane protein 1 (LETM1) was initially identified through studies investigating the genetic basis of Wolf–Hirschhorn syndrome (WHS).

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The Short Version

The historical record supports this claim. LETM1 was first identified in gene-mapping and positional-cloning studies of the 4p16.3 region associated with Wolf–Hirschhorn syndrome, aimed at finding genes deleted in affected patients. A more precise wording would mention mapping of the WHS critical region, but the claim’s core point remains accurate.

Caveats

  • A more precise description is that LETM1 was identified through positional cloning/mapping of the WHS-associated 4p16.3 deletion region.
  • The discovery was tied to finding genes deleted in WHS patients, not initially to functional studies of LETM1’s mitochondrial role.
  • Broad phrasing such as 'investigating the genetic basis' is accurate here, but it compresses a specific gene-discovery method into a general description.

The Receipts

  1. LETM1: A Single Entity With Diverse Impact on Mitochondrial Metabolism

    Frontiers in Physiology (NIH PMC)

  2. The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor

    PubMed Central (NIH/NLM)

  3. The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor

    PubMed

  4. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

    Johns Hopkins University / Genomics

  5. The Pathophysiology of LETM1

    Antioxidants & Redox Signaling (NIH PMC)

  6. LETM1 gene

    MedlinePlus Genetics (NIH)

  7. LETM1 haploinsufficiency causes mitochondrial defects in cells from patients with Wolf-Hirschhorn syndrome

    Human Molecular Genetics (PMC / NCBI)

  8. Wolf–Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

    PubMed Central (NIH)

  9. LETM1, a novel gene encoding a putative EF-hand Ca2+-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients

    PubMed (American Journal of Human Genetics)

  10. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

    PubMed

+ 6 more sources — see the full list on Lenz

Filed Under

LETM1Leucine Zipper EF-Hand-Containing Transmembrane Protein 1Wolf–Hirschhorn Syndrome

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