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Cited by 1Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiac Fibrosis and Remodeling

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Sex-specific response to A1BG loss results in female dilated cardiomyopathy

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Emerson, James I., Shi, Wei, Conlon, Frank L.·2025·Biology of Sex Differences
DOI 10.1186/s13293-025-00713-8PMC PMC12016195

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Abstract

Background: Cardiac disease often manifests with sex-specific differences in frequency, pathology, and progression. However, the molecular mechanisms underlying these differences remain incompletely understood. The glycoprotein A1BG has emerged as a female-specific regulator of cardiac structure and integrity, yet its precise role in the female heart is not well characterized. Methods: To investigate the sex-specific role of A1BG in the heart, we generated both a conditional A1bg knockout allele and an A1bg Rosa26 knockin allele. We employed histological analysis, electrocardiography, RNA sequencing (RNA-seq), transmission electron microscopy (TEM), western blotting, mass spectrometry, and immunohistochemistry to assess structural, functional, and molecular phenotypes. Results: Loss of A1BG in cardiomyocytes leads to persistent structural remodeling in female, but not male, hearts. Despite preserved systolic function in female A1bg CM/CM mice left ventricular dilation and wall thinning are evident and sustained over time, consistent with early-stage dilated cardiomyopathy (DCM). Transcriptomic analyses reveal that A1BG regulates key metabolic pathways in females, including glucose-6-phosphate and acetyl-CoA metabolism. TEM imaging highlights sex-specific disruption of intercalated disc architecture in female cardiomyocytes. These findings suggest that the absence of A1BG initiates chronic pathological remodeling in female hearts, potentially predisposing them to DCM under stress or aging. Conclusion: A1BG is essential for maintaining ventricular structural integrity in female, but not male, hearts, leading to a chronic remodeling consistent with early-stage DCM.

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Fig. 1 Loss of A1BG and Its Sex-Differential Cardiac Effects on the Left Ventricle. (A) Representative images of (A) male control, (B) female control, (C) male A1bgCM/CM (A1BG KO), and (D) female A1bgCM/CM (A1BG KO) hearts stained with hematoxylin and eosin. (E) Echocardiogram data (n = 11 mice of each genotype) for left ventricular posterior wall thickness in (E) systole (LVPW; s) and (F) diastole (LVPW; d). (G) Graph comparing female control and female A1BG KO mice at 4–6 week timepoint and 6 month for (G) ejection fraction (EF), (H) fractional shortening (FS), (I) left ventricular (LV) mass, (J) LV interior diameter in systole, and (K) diastole, (L) interventricular septum thickness, (M) LV volume in systole, and (N) diastole, and (O) LV posterior wall thickness in systole. Significance was determined by ANOVA with Tukey’s post-hoc test. **** indicates p < 0.0001, *** indicates p < 0.001, ** indicates p < 0.01, * indicates p < 0.05
Fig. 1 Loss of A1BG and Its Sex-Differential Cardiac Effects on the Left Ventricle. (A) Representative images of (A) male control, (B) female control, (C) male A1bgCM/CM (A1BG KO), and (D) female A1bgCM/CM (A1BG KO) hearts stained with hematoxylin and eosin. (E) Echocardiogram data (n = 11 mice of each genotype) for left ventricular posterior wall thickness in (E) systole (LVPW; s) and (F) diastole (LVPW; d). (G) Graph comparing female control and female A1BG KO mice at 4–6 week timepoint and 6 month for (G) ejection fraction (EF), (H) fractional shortening (FS), (I) left ventricular (LV) mass, (J) LV interior diameter in systole, and (K) diastole, (L) interventricular septum thickness, (M) LV volume in systole, and (N) diastole, and (O) LV posterior wall thickness in systole. Significance was determined by ANOVA with Tukey’s post-hoc test. **** indicates p < 0.0001, *** indicates p < 0.001, ** indicates p < 0.01, * indicates p < 0.05CC BY · PubMed Central
Fig. 2 Female hearts, but male hearts, regulate gene expression related to cardiac metabolism and DCM. Volcano plots of differentially expressed genes in (A) female KO vs. female control group and (B) male KO vs. male control group. Cutoffs used were adjusted p-value < 0.05, and log2 fold change ≥ 0.5 (C) Venn diagram depicting genes downregulated (left) and upregulated (right) in A1bgCM/CM (A1BG KO) mice in both males and females. Overlap indicates genes similarly regulated in both sexes in response to A1bgCM/CM (A1BG KO) (D) Pathway analysis of differentially expressed genes in response to A1bgCM/CM (A1BG KO). (E) Heat map of selected dysregulated genes in female A1bgCM/CM (A1BG KO) and control mice
Fig. 2 Female hearts, but male hearts, regulate gene expression related to cardiac metabolism and DCM. Volcano plots of differentially expressed genes in (A) female KO vs. female control group and (B) male KO vs. male control group. Cutoffs used were adjusted p-value < 0.05, and log2 fold change ≥ 0.5 (C) Venn diagram depicting genes downregulated (left) and upregulated (right) in A1bgCM/CM (A1BG KO) mice in both males and females. Overlap indicates genes similarly regulated in both sexes in response to A1bgCM/CM (A1BG KO) (D) Pathway analysis of differentially expressed genes in response to A1bgCM/CM (A1BG KO). (E) Heat map of selected dysregulated genes in female A1bgCM/CM (A1BG KO) and control miceCC BY · PubMed Central
Fig. 3 A1BG is required in females for the formation of the cardiac intercalated disc. (A-D) Transmission electron micrograph images of (A) male control, (B) female control, (C) male A1bgCM/CM (A1BG KO), and female A1bgCM/CM (A1BG KO) (D) hearts taken at 50000x magnification. (E) Quantification of differences in cardiomyocyte intercalation, taken as a ratio of the total length of cell border divided by straight line length (n = 2 hearts per genotype with > 10 intercalated discs per heart analyzed. (F) PR interval duration in male and female A1bgCM/CM (A1BG KO, control) and Tnnt2-Cre; A1bgCM/CM (A1BG KO) mice (n = 14 mice per genotype). Significance was determined by ANOVA, followed by Tukey’s test. * Indicates p < 0.05 between indicated groups, **** indicates p < 0.0001 between indicated groups
Fig. 3 A1BG is required in females for the formation of the cardiac intercalated disc. (A-D) Transmission electron micrograph images of (A) male control, (B) female control, (C) male A1bgCM/CM (A1BG KO), and female A1bgCM/CM (A1BG KO) (D) hearts taken at 50000x magnification. (E) Quantification of differences in cardiomyocyte intercalation, taken as a ratio of the total length of cell border divided by straight line length (n = 2 hearts per genotype with > 10 intercalated discs per heart analyzed. (F) PR interval duration in male and female A1bgCM/CM (A1BG KO, control) and Tnnt2-Cre; A1bgCM/CM (A1BG KO) mice (n = 14 mice per genotype). Significance was determined by ANOVA, followed by Tukey’s test. * Indicates p < 0.05 between indicated groups, **** indicates p < 0.0001 between indicated groupsCC BY · PubMed Central
Fig. 4 A1BG is an extracellular matrix protein. (A) Schematic of A1BG genomic locus, mRNA transcript, and protein with key domains indicated. Amino acid numbers are noted below, and disulfide bonds are above the diagram. (B) AlphaFold3 structure prediction of A1BG. (C) AlphaFold 3 prediction of human A1BG (blue) aligned with mouse A1bg (green) with root mean square deviation indicated (RMSD) (D) Immunohistochemistry staining of female atria with antibodies for tropomyosin (TMY, green), A1BG (red), and DAPI (blue)
Fig. 4 A1BG is an extracellular matrix protein. (A) Schematic of A1BG genomic locus, mRNA transcript, and protein with key domains indicated. Amino acid numbers are noted below, and disulfide bonds are above the diagram. (B) AlphaFold3 structure prediction of A1BG. (C) AlphaFold 3 prediction of human A1BG (blue) aligned with mouse A1bg (green) with root mean square deviation indicated (RMSD) (D) Immunohistochemistry staining of female atria with antibodies for tropomyosin (TMY, green), A1BG (red), and DAPI (blue)CC BY · PubMed Central
Fig. 5 Female and male A1BG cardiomyocyte interactome. (A) Schematic of A1BG Rosa26 genomic locus for generation of CM-A1BG3XHA mice. (B) Schematic depicting immuno-purification of A1BG in male and female mouse hearts to identify the A1BG interactome by mass spectrometry. Cutoffs were Log fold change > 1.5 A1BG IP vs. non-HA control) (C) Proteins enriched in the (C) female and (D) male A1BG interactome with associated gene ontology circled
Fig. 5 Female and male A1BG cardiomyocyte interactome. (A) Schematic of A1BG Rosa26 genomic locus for generation of CM-A1BG3XHA mice. (B) Schematic depicting immuno-purification of A1BG in male and female mouse hearts to identify the A1BG interactome by mass spectrometry. Cutoffs were Log fold change > 1.5 A1BG IP vs. non-HA control) (C) Proteins enriched in the (C) female and (D) male A1BG interactome with associated gene ontology circledCC BY · PubMed Central

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Metadata

Authors
Emerson, J. I., Shi, W., & Conlon, F. L.
Affiliations
University of North Carolina at Chapel Hill (US)
Corresponding author
Conlon, Frank L.
ORCID
Venue
Biology of Sex Differences
Publisher
Springer Science and Business Media LLC
Published
2025-04-23
Volume
16
Issue
1
Pages
27-27
ISSN
2042-6410 (ISSN-L)
DOI
10.1186/s13293-025-00713-8
PMC
PMC12016195
OpenAlex
W4400772688
Cited by
1
References
3
Citations by year
2026: 1
FWCI
0.70
Type
journal article
Language
en
Open access
Licence
Locations
  • Biology of Sex Differences (publishedVersion, cc-by)
  • Research Square (acceptedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • PubMed Central (submittedVersion, cc-by)
  • Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion, cc-by)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Heart, Lung, and Blood Institute (R01HL126509)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac Fibrosis and Remodeling
Keywords
dilated cardiomyopathy, sex differences, cardiomyocyte function, intercalated discs, conditional knockout mice, left ventricle

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