A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration - Takeaways - MDSpire

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration

  • By

  • Shuran Zhang

  • Wenming Huang

  • Haoqiang Chen

  • Ninghui Mu

  • Le Chang

  • Baosheng Zhu

  • Jinman Zhang

  • Ying Chan

  • June 9, 2026

  • 0 min

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  • 1

    Familial hypercholesterolemia (FH) is primarily caused by mutations in the LDLR gene, leading to elevated LDL cholesterol and increased cardiovascular disease risk.

  • 2

    The study identifies a novel LDLR mutation, c.331C>T (p.Gln111Ter), in a homozygous FH patient, expanding the spectrum of pathogenic mutations associated with FH.

  • 3

    Functional analysis revealed that the identified mutation significantly impairs LDLR protein expression, confirming its pathogenicity.

  • 4

    A high-fidelity gene correction system using prime editing technology achieved approximately 98% correction efficiency for the LDLR mutation.

  • 5

    This research highlights the potential for personalized gene therapy approaches to treat homozygous FH, addressing a significant gap in current clinical management.

Original Source(s)

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration

  • by Shuran Zhang, Wenming Huang, Haoqiang Chen, Ninghui Mu, Le Chang, Baosheng Zhu, Jinman Zhang, Ying Chan

  • June 9, 2026

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