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Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Updated: Nov 26, 2025

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
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ACTA2 Mutation: Microsurgeon Beware!

Ayesha Punjabi1, David E Kurlander1, Corinne Wee1

  • 1Plastic Surgery, Case Western Reserve University, Cleveland, Ohio.

Plastic and Reconstructive Surgery. Global Open
|December 10, 2020
PubMed
Summary
This summary is machine-generated.

Patients with the alpha actin 2 mutation experience vascular issues. Reconstructive surgery outcomes are poor, with significant flap loss and healing complications, suggesting alternative approaches are needed.

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Area of Science:

  • Vascular Surgery
  • Genetics
  • Plastic Surgery

Background:

  • Alpha actin 2 (ACTA2) mutation causes early-onset vascular disease.
  • Free flap reconstruction outcomes in ACTA2 mutation patients are not well-documented.

Observation:

  • A 21-year-old woman with ACTA2 mutation underwent free flap reconstruction after a stroke.
  • The initial Cushing flap necrosed, necessitating a latissimus myocutaneous flap.
  • The patient experienced flap necrosis, venous thrombosis, and extensive wound healing issues.

Findings:

  • The free latissimus flap had significant distal loss (75%) and donor site necrosis.
  • Complications included venous thrombosis, requiring tPA and saphenous vein graft revision.
  • Regenerative tissue matrix was used for final wound closure.

Implications:

  • Free flap reconstruction poses high risks for patients with ACTA2 mutations.
  • Reconstructive strategies minimizing donor site morbidity are recommended.
  • Further case reports are crucial for understanding outcomes in this patient group.