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Mitochondrial swelling

MedGen UID:
7664
Concept ID:
C0026244
Cell or Molecular Dysfunction
Synonyms: Mitochondrial Swelling; Swelling, Mitochondrial
SNOMED CT: Mitochondrial enlargement (125429001); Mitochondrial swelling (125429001); Megaconial disorder (125429001)
 
HPO: HP:0030774

Definition

The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial swelling

Conditions with this feature

Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Combined oxidative phosphorylation deficiency 19
MedGen UID:
816385
Concept ID:
C3810055
Disease or Syndrome
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.
Mitochondrial complex 1 deficiency, nuclear type 29
MedGen UID:
1648451
Concept ID:
C4748830
Disease or Syndrome

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Korotkov SM
Int J Mol Sci 2023 Sep 22;24(19) doi: 10.3390/ijms241914459. PMID: 37833908Free PMC Article
Zhou Y, Jiao J, Yang R, Wen B, Wu Q, Xu L, Tong X, Yan H
Clin Immunol 2023 Nov;256:109772. Epub 2023 Sep 15 doi: 10.1016/j.clim.2023.109772. PMID: 37716612
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Acta Pharmacol Sin 2021 May;42(5):735-743. Epub 2020 Aug 7 doi: 10.1038/s41401-020-0493-4. PMID: 32770172Free PMC Article
Niknahad H, Heidari R, Mohammadzadeh R, Ommati MM, Khodaei F, Azarpira N, Abdoli N, Zarei M, Asadi B, Rasti M, Shirazi Yeganeh B, Taheri V, Saeedi A, Najibi A
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Sokolove PM
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Diagnosis

Shami GJ, Samarska IV, Koek GH, Li A, Palma E, Chokshi S, Wisse E, Braet F
Liver Int 2023 Nov;43(11):2365-2378. Epub 2023 Aug 24 doi: 10.1111/liv.15711. PMID: 37615254
Surma M, Anbarasu K, Dutta S, Olivera Perez LJ, Huang KC, Meyer JS, Das A
Commun Biol 2023 Feb 24;6(1):218. doi: 10.1038/s42003-023-04576-w. PMID: 36828933Free PMC Article
Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free PMC Article
Cao Y, Wu J, Yue Y, Zhang C, Liu S, Zhong P, Wang S, Huang X, Deng W, Pan J, Zheng L, Liu Q, Shang L, Zhang B, Yang J, Chen G, Chen S, Cao L, Luan X
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Ostadal B, Drahota Z, Houstek J, Milerova M, Ostadalova I, Hlavackova M, Kolar F
Can J Physiol Pharmacol 2019 Sep;97(9):808-814. Epub 2019 Mar 20 doi: 10.1139/cjpp-2019-0060. PMID: 30893574

Therapy

Zhou Y, Jiao J, Yang R, Wen B, Wu Q, Xu L, Tong X, Yan H
Clin Immunol 2023 Nov;256:109772. Epub 2023 Sep 15 doi: 10.1016/j.clim.2023.109772. PMID: 37716612
Shi X, Yin Y, Guo X, Liu M, Ma F, Tian L, Zheng M, Liu G
Biochem Biophys Res Commun 2023 Sep 3;671:105-115. Epub 2023 May 30 doi: 10.1016/j.bbrc.2023.05.120. PMID: 37300940
Dong ZH, Lin HY, Chen FL, Che XQ, Bi WK, Shi SL, Wang J, Gao L, He Z, Zhao JJ
Acta Pharmacol Sin 2021 May;42(5):735-743. Epub 2020 Aug 7 doi: 10.1038/s41401-020-0493-4. PMID: 32770172Free PMC Article
Niknahad H, Heidari R, Mohammadzadeh R, Ommati MM, Khodaei F, Azarpira N, Abdoli N, Zarei M, Asadi B, Rasti M, Shirazi Yeganeh B, Taheri V, Saeedi A, Najibi A
Ren Fail 2017 Nov;39(1):745-753. doi: 10.1080/0886022X.2017.1399908. PMID: 29214868Free PMC Article
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Prognosis

Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free PMC Article
Ghilardi C, Moreira-Barbosa C, Brunelli L, Ostano P, Panini N, Lupi M, Anastasia A, Fiordaliso F, Salio M, Formenti L, Russo M, Arrigoni E, Chiaradonna F, Chiorino G, Draetta G, Marszalek JR, Vellano CP, Pastorelli R, Bani M, Decio A, Giavazzi R
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Khmelinskii I, Makarov V
Biosystems 2021 Dec;210:104559. Epub 2021 Oct 7 doi: 10.1016/j.biosystems.2021.104559. PMID: 34627969
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Javadov S, Chapa-Dubocq X, Makarov V
Mitochondrion 2018 Jan;38:58-70. Epub 2017 Aug 10 doi: 10.1016/j.mito.2017.08.004. PMID: 28802667Free PMC Article

Clinical prediction guides

Zhou Y, Jiao J, Yang R, Wen B, Wu Q, Xu L, Tong X, Yan H
Clin Immunol 2023 Nov;256:109772. Epub 2023 Sep 15 doi: 10.1016/j.clim.2023.109772. PMID: 37716612
Shang Y, Li Z, Cai P, Li W, Xu Y, Zhao Y, Xia S, Shao Q, Wang H
Mitochondrion 2023 Jul;71:64-75. Epub 2023 Jun 3 doi: 10.1016/j.mito.2023.06.001. PMID: 37276954
Khmelinskii I, Makarov V
Biosystems 2021 Dec;210:104559. Epub 2021 Oct 7 doi: 10.1016/j.biosystems.2021.104559. PMID: 34627969
Javadov S, Chapa-Dubocq X, Makarov V
Mitochondrion 2018 Jan;38:58-70. Epub 2017 Aug 10 doi: 10.1016/j.mito.2017.08.004. PMID: 28802667Free PMC Article
Kaasik A, Safiulina D, Zharkovsky A, Veksler V
Am J Physiol Cell Physiol 2007 Jan;292(1):C157-63. Epub 2006 Jul 26 doi: 10.1152/ajpcell.00272.2006. PMID: 16870828

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