Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies
Abstract
:1. Background
2. Mitochondrial Dysfunction in Anderson–Fabry Disease
3. Neuropathological Aspects of Gb3 Accumulation in AA
4. Globotriaosylceramide Isoforms and Globotriaosylsphingosine in Organ Damage Related to Anderson–Fabry Disease
5. Pathogenesis of Endothelial Dysfunction Linked to Gb3 Accumulation
6. Pathogenesis of Lysosomal Damage due to Globotriaosylceramide (Gb3)
7. Molecular Pathogenesis of Renal Involvement in Anderson–Fabry Disease
8. Molecular Pathogenesis of Cardiac Involvement in Anderson–Fabry Disease
9. Molecular Mechanisms and Possible Therapeutic Targets
10. Autophagy Abnormalities in Molecular Pathogenesis of Anderson–Fabry Disease
11. Conclusions
Author Contributions
Funding
Conflicts of Interest
Abbreviations
AFD | Anderson Fabry disease |
Gb3 | Globotriaosylceramide |
GLA | Alpha-galactosidase A |
ESRD | End-stage renal disease |
ADP | Adenosine-di-phosphate |
AMP | Adenosin mono-phosphate |
ATP | adenosine-tri-phosphate |
LC3-II | Microtubule-associated protein 1A/1B-light chain 3 |
MTOR | Mechanistic target of rapamycin kinase- |
AMPK | AMP-activated protein kinase |
TFEB | Transcription factor EB |
Tfam | Mitochondrial transcription factor 1 |
CoxI | Cytochrome c oxidase subunit 1 |
Cox IV | Cytochrome c oxidase subunit IV |
ECs | Endothelial cells |
KCa3.1 | Ca2+ activated K+ channel |
MAEC | Mouse aortic endothelial cells |
PI(3)P | Phosphatidylinositol 3-phosphates |
ROS | Reactive oxygen species |
ERK 1/2 | Extracellular signal-regulated kinases |
VECs | Endothelial cells |
EDR | Endothelium–dependent relaxation |
CRISPR)-Cas9 | Clustered Regularly Interspaced Short Palindromic Repeats Cas 9 |
TSP-1 | Thrombospondin-1 |
SMAD2 | p-mothers against decapentaplegic homolog 2 |
SDMA | Symmetric Dimethylarginine |
ADMA | l-arginine, asymmetric |
hArg | l-homoarginine |
MMP-9 | Metalloproteinase 9 Pathogenesis of lysosomal damage due to globotriaosylceramide (Gb3) |
EDHF | Endothelium-derived hyperpolarizing factor |
KCa3.1 | Ca2+-activated K+ channel |
HEK cells | Human embryonic kidney cells |
ACR | Albumin/creatinine ratio |
RIPK3 | Receptor Interacting Serine/Threonine Kinase 3 |
TGF-β1 | Transforming growth factor, beta 1 |
CD74 | cluster differentiation 74 |
ITGAV | Integrin Subunit Alpha V |
ITGB3 | transforming growth factor beta 3, |
PLAUR (UPAR) | Plasminogen Activator, Urokinase Receptor (rokinase plasminogen activator surface receptor) |
MCP1 | Monocyte chemoattractant protein-1 |
RANTES | Regulated upon Activation, Normal T Cell Expressed and Presumably Secreted |
REST | Repressor element-1 silencing transcription factor |
GWAS | genome-wide association studies |
ADH4 | Alcohol Dehydrogenase 4 |
ADH5 | Alcohol Dehydrogenase 5 |
LAMP-2 | Lysosome-associated membrane protein 2 |
VSMC | Vascular smooth muscle cells |
GSI IX | γ-secretase inhibitor |
PBMCs | Peripheral blood mononuclear cell |
TLR4 | Toll-like Receptor 4 |
SRT | substrate reduction therapy |
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Kidney-Specific Gb3 (Globotriaosylceramide) Isoforms | Cardiac Specifics Gb3 Isoforms | Lyso-Gb3 Analougues |
---|---|---|
Gb3 (d18: 1–C24: 0) | Gb3 (d18: 1–C16: 0) | Lyso-Gb3 (−2) |
Gb3 (d18: 1–C16): 0) | Lyso-Gb3 (+16) | |
Lyso-Gb3 (+18) |
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Tuttolomondo, A.; Simonetta, I.; Riolo, R.; Todaro, F.; Di Chiara, T.; Miceli, S.; Pinto, A. Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. Int. J. Mol. Sci. 2021, 22, 10088. https://doi.org/10.3390/ijms221810088
Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A. Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. International Journal of Molecular Sciences. 2021; 22(18):10088. https://doi.org/10.3390/ijms221810088
Chicago/Turabian StyleTuttolomondo, Antonino, Irene Simonetta, Renata Riolo, Federica Todaro, Tiziana Di Chiara, Salvatore Miceli, and Antonio Pinto. 2021. "Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies" International Journal of Molecular Sciences 22, no. 18: 10088. https://doi.org/10.3390/ijms221810088