Effects of MFN2 mutation (Homo sapiens)

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51269541125573, 101211Decreased energy metabolism BindsLate endosome / lysosomeRetrogate transportKinesinSynaptic vesicleLow negative resting membrane potential AccumulationAxon degenerationLinkER-mitochondria tetheringKIF1BCardiolipinsPhospholipase DRHOT1Defective mitochondrial axonal transportMFN2SYPL1DYNC1I1SynaptogenesisDYNC2I1AutophagyPhosphatidic acidsSNCACASP3RAB3BBAXDYNC2H1DYNC1H1DYNC2I2Ca2+ATAT1ATPTP53RABAC1RAB7ACASP8ApoptosisTRAK1DYNC1LI2MAP2Na+DCTN1RAB3ATUBB3Mutated


Description

Mutation in mitofusin-2 (MFN2) and all the proteins that are consequently changed.

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Bibliography

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  1. Fang D, Yan S, Yu Q, Chen D, Yan SS; ''Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons.''; Sci Rep, 2016 PubMed Europe PMC Scholia
  2. Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M; ''MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.''; Hum Mol Genet, 2019 PubMed Europe PMC Scholia
  3. Zanfardino P, Amati A, Petracca EA, Santorelli FM, Petruzzella V; ''Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.''; Acta Myol, 2022 PubMed Europe PMC Scholia
  4. Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH; ''Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.''; J Neurosci, 2010 PubMed Europe PMC Scholia
  5. Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, Stuppia G, Del Bo R, Piga D, Fato R, Bresolin N, Comi GP, Corti S; ''Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
  6. Wang JT, Medress ZA, Barres BA; ''Axon degeneration: molecular mechanisms of a self-destruction pathway.''; J Cell Biol, 2012 PubMed Europe PMC Scholia
  7. Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH; ''Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.''; J Neurosci, 2012 PubMed Europe PMC Scholia
  8. Kumar A, Larrea D, Pero ME, Infante P, Conenna M, Shin GJ, Grueber WB, Di Marcotullio L, Area-Gomez E, Bartolini F; ''MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A.''; bioRxiv, 2023 PubMed Europe PMC Scholia
  9. Mou Y, Dein J, Chen Z, Jagdale M, Li XJ; ''MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons.''; Front Mol Neurosci, 2021 PubMed Europe PMC Scholia
  10. Chandhok G, Lazarou M, Neumann B; ''Structure, function, and regulation of mitofusin-2 in health and disease.''; Biol Rev Camb Philos Soc, 2018 PubMed Europe PMC Scholia
  11. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J; ''Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.''; J Neurosci, 2007 PubMed Europe PMC Scholia
  12. Lee S, Min KT; ''The Interface Between ER and Mitochondria: Molecular Compositions and Functions.''; Mol Cells, 2018 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
129470view02:26, 23 April 2024EweitzEconomize layout
129465view01:56, 23 April 2024EweitzImprove interaction alignment
129464view01:55, 23 April 2024EweitzDisambiguate interaction source, economize layout
129463view01:52, 23 April 2024EweitzRemove superfluous descriptor
129462view01:50, 23 April 2024EweitzUse standard pathway color
129461view01:43, 23 April 2024EweitzOntology Term : 'altered transport pathway' added !
129460view01:42, 23 April 2024EweitzEconomize layout, improve alignment
129457view00:58, 23 April 2024EweitzOntology Term : 'altered cellular autophagy' added !
129456view00:58, 23 April 2024EweitzOntology Term : 'apoptotic cell death pathway' added !
129455view00:57, 23 April 2024EweitzModified title
129454view00:55, 23 April 2024EweitzModified description
129453view00:53, 23 April 2024EweitzEconomize layout
129452view00:47, 23 April 2024EweitzEconomize layout
129451view00:29, 23 April 2024EweitzEconomize layout, standardize shapes
129014view10:48, 6 March 2024JordyG02Improved arrows
129000view18:15, 28 February 2024JordyG02removed opa1 and mtor
128999view15:39, 28 February 2024JordyG02New pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ATAT1GeneProductENSG00000137343 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
ApoptosisPathwayWP254 (WikiPathways)
AutophagyPathwayWP4923 (WikiPathways)
BAXGeneProductENSG00000087088 (Ensembl)
CASP3GeneProductENSG00000164305 (Ensembl)
CASP8GeneProductENSG00000064012 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
CardiolipinsMetaboliteCHEBI:28494 (ChEBI)
DCTN1GeneProductENSG00000204843 (Ensembl)
DYNC1H1GeneProductENSG00000197102 (Ensembl)
DYNC1I1GeneProductENSG00000158560 (Ensembl)
DYNC1LI2GeneProductENSG00000135720 (Ensembl)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2I1GeneProductENSG00000126870 (Ensembl)
DYNC2I2GeneProductENSG00000119333 (Ensembl)
Defective mitochondrial axonal transportPathwayWP4856 (WikiPathways)
KIF1BGeneProductENSG00000054523 (Ensembl)
MAP2GeneProductENSG00000078018 (Ensembl)
MFN2GeneProductENSG00000116688 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
Phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
Phospholipase DMetaboliteQ700007 (Wikidata)
RAB3AGeneProductENSG00000105649 (Ensembl)
RAB3BGeneProductENSG00000169213 (Ensembl)
RAB7AGeneProductENSG00000075785 (Ensembl)
RABAC1GeneProductENSG00000105404 (Ensembl)
RHOT1GeneProductENSG00000126858 (Ensembl)
SNCAGeneProductENSG00000145335 (Ensembl)
SYPL1GeneProductENSG00000008282 (Ensembl)
SynaptogenesisPathwayWP5231 (WikiPathways)
TP53GeneProductENSG00000141510 (Ensembl)
TRAK1GeneProductENSG00000182606 (Ensembl)
TUBB3GeneProductENSG00000258947 (Ensembl)

Annotated Interactions

No annotated interactions

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