Improving mitochondria-associated endoplasmic reticulum
membranes integrity as converging therapeutic strategy for rare
neurodegenerative diseases and cancer

J 2025

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer

CAGALINEC, Michal; Adnan MOHD; Silvia BORECKA; Geert BULTYNCK; Vinay CHOUBEY et al.

Základní údaje

Originální název

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer

Autoři

Vydání

Biochimica et biophysica acta : Molecular Cell Research, Amsterdam, Elsevier, 2025, 0167-4889

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10601 Cell biology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.700 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/25:00141893

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

Mitochondria-associated endoplasmic; reticulum membranes; Rare neurodegenerative diseases

Štítky

14314010, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 1. 9. 2025 12:20, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Membrane contact sites harbor a distinct set of proteins with varying biological functions, thereby emerging as hubs for localized signaling nanodomains underlying adequate cell function. Here, we will focus on mitochondria-associated endoplasmic reticulum membranes (MAMs), which serve as hotspots for Ca2+ signaling, redox regulation, lipid exchange, mitochondrial quality and unfolded protein response pathway. A network of MAM-resident proteins contributes to the structural integrity and adequate function of MAMs. Beyond endoplasmic reticulum (ER)-mitochondrial tethering proteins, MAMs contain several multi-protein complexes that mediate the transfer of or are influenced by Ca2+, reactive oxygen species and lipids. Particularly, IP3 receptors, intracellular Ca2+-release channels, and Sigma-1 receptors (S1Rs), ligand-operated chaperones, serve as important platforms that recruit different accessory proteins and intersect with these local signaling processes. Furthermore, many of these proteins are directly implicated in pathophysiological conditions, where their dysregulation or mutation is not only causing diseases such as cancer and neurodegeneration, but also rare genetic diseases, for example familial Parkinson's disease (PINK1, Parkin, DJ-1), familial Amyotrophic lateral sclerosis (TDP43), Wolfram syndrome1/2 (WFS1 and CISD2), Harel-Yoon syndrome (ATAD3A). In this review, we will discuss the current state-of-the-art regarding the molecular components, protein platforms and signaling networks underlying MAM integrity and function in cell function and how their dysregulation impacts MAMs, thereby driving pathogenesis and/or impacting disease burden. We will highlight how these insights can generate novel, potentially therapeutically relevant, strategies to tackle disease outcomes by improving the integrity of MAMs and the signaling processes occurring at these membrane contact sites.

Návaznosti

LX22NPO5102, projekt VaV

Název: Národní ústav pro výzkum rakoviny (Akronym: NÚVR)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní ústav pro výzkum rakoviny, 5.1 EXCELES

Citovat

CAGALINEC, Michal; Adnan MOHD; Silvia BORECKA; Geert BULTYNCK; Vinay CHOUBEY; Shira YANOVSKY-DAGAN; Shlomit EZER; Daniela GASPERIKOVA; Tamar HAREL; Dana JURKOVICOVA; Allen KAASIK; Jean-Charles LIEVENS; Tangui MAURICE; Marco PEVIANI; Elodie Marie RICHARD; Jan ŠKODA; Martina SKOPKOVA; Pauline TAROT; Robbe VAN GORP; Liga ZVEJNIECE a Benjamin DELPRAT. Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer. Biochimica et biophysica acta : Molecular Cell Research. Amsterdam: Elsevier, 2025, roč. 1872, č. 5, s. 119954-119976. ISSN 0167-4889. Dostupné z: https://doi.org/10.1016/j.bbamcr.2025.119954.

@article{2514941,
   author = {Cagalinec, Michal and Mohd, Adnan and Borecka, Silvia and Bultynck, Geert and Choubey, Vinay and YanovskyandDagan, Shira and Ezer, Shlomit and Gasperikova, Daniela and Harel, Tamar and Jurkovicova, Dana and Kaasik, Allen and Lievens, JeanandCharles and Maurice, Tangui and Peviani, Marco and Richard, Elodie Marie and Škoda, Jan and Skopkova, Martina and Tarot, Pauline and Van Gorp, Robbe and Zvejniece, Liga and Delprat, Benjamin},
   article_location = {Amsterdam},
   article_number = {5},
   doi = {https://doi.org/10.1016/j.bbamcr.2025.119954},
   keywords = {Mitochondria-associated endoplasmic; reticulum membranes; Rare neurodegenerative diseases},
   language = {eng},
   issn = {0167-4889},
   journal = {Biochimica et biophysica acta : Molecular Cell Research},
   title = {Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer},
   url = {https://www.sciencedirect.com/science/article/pii/S016748892500059X},
   volume = {1872},
   year = {2025}
}

TY  - JOUR
ID  - 2514941
AU  - Cagalinec, Michal - Mohd, Adnan - Borecka, Silvia - Bultynck, Geert - Choubey, Vinay - Yanovsky-Dagan, Shira - Ezer, Shlomit - Gasperikova, Daniela - Harel, Tamar - Jurkovicova, Dana - Kaasik, Allen - Lievens, Jean-Charles - Maurice, Tangui - Peviani, Marco - Richard, Elodie Marie - Škoda, Jan - Skopkova, Martina - Tarot, Pauline - Van Gorp, Robbe - Zvejniece, Liga - Delprat, Benjamin
PY  - 2025
TI  - Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer
JF  - Biochimica et biophysica acta : Molecular Cell Research
VL  - 1872
IS  - 5
SP  - 119954
EP  - 119954
PB  - Elsevier
SN  - 01674889
KW  - Mitochondria-associated endoplasmic
KW  - reticulum membranes
KW  - Rare neurodegenerative diseases
UR  - https://www.sciencedirect.com/science/article/pii/S016748892500059X
N2  - Membrane contact sites harbor a distinct set of proteins with varying biological functions, thereby emerging as hubs for localized signaling nanodomains underlying adequate cell function. Here, we will focus on mitochondria-associated endoplasmic reticulum membranes (MAMs), which serve as hotspots for Ca2+ signaling, redox regulation, lipid exchange, mitochondrial quality and unfolded protein response pathway. A network of MAM-resident proteins contributes to the structural integrity and adequate function of MAMs. Beyond endoplasmic reticulum (ER)-mitochondrial tethering proteins, MAMs contain several multi-protein complexes that mediate the transfer of or are influenced by Ca2+, reactive oxygen species and lipids. Particularly, IP3 receptors, intracellular Ca2+-release channels, and Sigma-1 receptors (S1Rs), ligand-operated chaperones, serve as important platforms that recruit different accessory proteins and intersect with these local signaling processes. Furthermore, many of these proteins are directly implicated in pathophysiological conditions, where their dysregulation or mutation is not only causing diseases such as cancer and neurodegeneration, but also rare genetic diseases, for example familial Parkinson's disease (PINK1, Parkin, DJ-1), familial Amyotrophic lateral sclerosis (TDP43), Wolfram syndrome1/2 (WFS1 and CISD2), Harel-Yoon syndrome (ATAD3A). In this review, we will discuss the current state-of-the-art regarding the molecular components, protein platforms and signaling networks underlying MAM integrity and function in cell function and how their dysregulation impacts MAMs, thereby driving pathogenesis and/or impacting disease burden. We will highlight how these insights can generate novel, potentially therapeutically relevant, strategies to tackle disease outcomes by improving the integrity of MAMs and the signaling processes occurring at these membrane contact sites.
ER  -

CAGALINEC, Michal; Adnan MOHD; Silvia BORECKA; Geert BULTYNCK; Vinay CHOUBEY; Shira YANOVSKY-DAGAN; Shlomit EZER; Daniela GASPERIKOVA; Tamar HAREL; Dana JURKOVICOVA; Allen KAASIK; Jean-Charles LIEVENS; Tangui MAURICE; Marco PEVIANI; Elodie Marie RICHARD; Jan ŠKODA; Martina SKOPKOVA; Pauline TAROT; Robbe VAN GORP; Liga ZVEJNIECE a Benjamin DELPRAT. Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer. \textit{Biochimica et biophysica acta : Molecular Cell Research}. Amsterdam: Elsevier, 2025, roč.~1872, č.~5, s.~119954-119976. ISSN~0167-4889. Dostupné z: https://doi.org/10.1016/j.bbamcr.2025.119954.

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