A mouse model of cardiac immunoglobulin light chain amyloidosis reveals insights into tissue accumulation and toxicity of amyloid fibrils

G Gemma Martinez-Rivas M Maria Victoria Ayala S Sebastien Bender G Gilles Roussine Codo W Weronika Karolina Swiderska A Alessio Lampis L Laura Pedroza M Melisa Merdanovic P Pierre Sicard E Emilie Pinault L Laurence Richard F Francesca Lavatelli S Sofia Giorgetti D Diana Canetti A Alexa Rinsant S Sihem Kaaki C Cécile Ory C Christelle Oblet J Justine Pollet E Eyad Naser A Alexander Carpinteiro M Muriel Roussel V Vincent Javaugue A Arnaud Jaccard A Amélie Bonaud L Laurent Delpy M Michael Ehrmann F Frank Bridoux C Christophe Sirac

Abstract

Abstract Immunoglobulin light chain (LC) amyloidosis (AL) is one of the most common types of systemic amyloidosis but there is no reliable in vivo model for better understanding this disease. Here, we develop a transgenic mouse model producing a human AL LC. We show that the soluble full length LC is not toxic but a single injection of pre-formed amyloid fibrils or an unstable fragment of the LC leads to systemic amyloid deposits associated with early cardiac dysfunction. AL fibrils in mice are highly similar to that of human, arguing for a conserved mechanism of amyloid fibrils formation. Overall, this transgenic mice closely reproduces human cardiac AL amyloidosis and shows that a partial degradation of the LC is likely to initiate the formation of amyloid fibrils in vivo, which in turn leads to cardiac dysfunction. This is a valuable model for research on AL amyloidosis and preclinical evaluation of new therapies.

Article Details

Volume / Issue Vol. 16, Issue 1
Published March 27, 2025
ISSN 2041-1723
Publisher Nature Portfolio

Journal Info

Nature Communications

Nature Portfolio

ISSN: 2041-1723 Open Access Life Sciences

Authors (29)

G

Gemma Martinez-Rivas

M

Maria Victoria Ayala

S

Sebastien Bender

G

Gilles Roussine Codo

W

Weronika Karolina Swiderska

A

Alessio Lampis

L

Laura Pedroza

M

Melisa Merdanovic

P

Pierre Sicard

E

Emilie Pinault

L

Laurence Richard

F

Francesca Lavatelli

S

Sofia Giorgetti

D

Diana Canetti

A

Alexa Rinsant

S

Sihem Kaaki

C

Cécile Ory

C

Christelle Oblet

J

Justine Pollet

E

Eyad Naser

A

Alexander Carpinteiro

M

Muriel Roussel

V

Vincent Javaugue

A

Arnaud Jaccard

A

Amélie Bonaud

L

Laurent Delpy

M

Michael Ehrmann

F

Frank Bridoux

C

Christophe Sirac