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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Rational correction of pathogenic conformational defects in HTRA1.

Nathalie Beaufort¹, Linda Ingendahl², Melisa Merdanovic²

¹Institute for Stroke and Dementia Research (ISD), University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.

Nature Communications

|July 16, 2024

Summary

This summary is machine-generated.

Researchers developed strategies to correct defects in HTRA1 protein assembly, which causes cerebral vasculopathy. These methods, including protein-based and chemical approaches, restore enzyme function and offer potential for targeted protein repair therapies.

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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Published on: March 10, 2023

Area of Science:

Molecular Biology
Biochemistry
Neuroscience
Genetics

Background:

Loss-of-function mutations in the homotrimeric serine protease HTRA1 are linked to cerebral vasculopathy.
Defective trimer assembly of HTRA1 impairs its enzymatic activity, contributing to disease pathogenesis.
Cerebral vasculopathy presents a significant challenge due to limited therapeutic options for correcting underlying protein defects.

Purpose of the Study:

To develop and validate strategies for the functional correction of HTRA1 trimer assembly defects.
To investigate both protein-based and small-molecule approaches for restoring HTRA1 enzymatic activity.
To assess the therapeutic potential of these strategies in preclinical models of HTRA1-associated vasculopathy.

Main Methods:

Identification and characterization of an HTRA1 variant that promotes trimer formation.
In vitro enzymatic assays to measure HTRA1 activity.
In vivo genetic experiments using Htra1^R274Q mice to assess protein corrector efficacy.
Screening and identification of supramolecular chemical ligands and peptidic ligands that modulate HTRA1 assembly and activity.

Main Results:

A novel HTRA1 variant was identified that enhances trimer formation and restores enzymatic activity in vitro.
Expression of the protein-based corrector in trans successfully stabilized HtrA1-R274Q in mice, restoring brain vasculature proteomic signatures.
Supramolecular chemical ligands and a specific peptidic ligand were found to shift the monomer-trimer equilibrium towards active trimers and activate HTRA1 monomers, respectively.

Conclusions:

Independent approaches, including protein-based and chemical strategies, can effectively correct HTRA1 trimer assembly defects.
These findings demonstrate the feasibility of targeted protein repair for HTRA1-associated cerebral vasculopathy.
The study opens new avenues for developing tailored therapeutic strategies for protein misfolding and aggregation diseases.