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Abnormal peroxisomal morphology

MedGen UID:
1841568
•Concept ID:
C5826473
•
Finding
HPO: HP:0034552

Definition

Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal peroxisomal morphology

Professional guidelines

PubMed

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V
Orphanet J Rare Dis 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. PMID: 35854306Free PMC Article
Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.
Zegallai HM, Hatch GM
Mol Cell Biochem 2021 Mar;476(3):1605-1629. Epub 2021 Jan 7 doi: 10.1007/s11010-020-04021-0. PMID: 33415565
Clinical classification and treatment of congenital and acquired lipodystrophy.
Chan JL, Oral EA
Endocr Pract 2010 Mar-Apr;16(2):310-23. doi: 10.4158/EP09154.RA. PMID: 20061300

Recent clinical studies

Etiology

Impact of peroxisome proliferator-activated receptor-α on diabetic cardiomyopathy.
Wang L, Cai Y, Jian L, Cheung CW, Zhang L, Xia Z
Cardiovasc Diabetol 2021 Jan 4;20(1):2. doi: 10.1186/s12933-020-01188-0. PMID: 33397369Free PMC Article
Molecular Pathogenesis in Huntington's Disease.
Illarioshkin SN, Klyushnikov SA, Vigont VA, Seliverstov YA, Kaznacheyeva EV
Biochemistry (Mosc) 2018 Sep;83(9):1030-1039. doi: 10.1134/S0006297918090043. PMID: 30472941
Diabetic Cardiomyopathy: An Update of Mechanisms Contributing to This Clinical Entity.
Jia G, Hill MA, Sowers JR
Circ Res 2018 Feb 16;122(4):624-638. doi: 10.1161/CIRCRESAHA.117.311586. PMID: 29449364Free PMC Article
Diabetes and Cognitive Impairment.
Zilliox LA, Chadrasekaran K, Kwan JY, Russell JW
Curr Diab Rep 2016 Sep;16(9):87. doi: 10.1007/s11892-016-0775-x. PMID: 27491830Free PMC Article
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827

Diagnosis

The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression.
Chen L, Dai P, Liu L, Chen Y, Lu Y, Zheng L, Wang H, Yuan Q, Li X
Nat Commun 2024 Aug 21;15(1):7184. doi: 10.1038/s41467-024-51489-1. PMID: 39169021Free PMC Article
VDR-SOX2 signaling promotes colorectal cancer stemness and malignancy in an acidic microenvironment.
Hu PS, Li T, Lin JF, Qiu MZ, Wang DS, Liu ZX, Chen ZH, Yang LP, Zhang XL, Zhao Q, Chen YX, Lu YX, Wu QN, Pu HY, Zeng ZL, Xie D, Ju HQ, Luo HY, Xu RH
Signal Transduct Target Ther 2020 Sep 9;5(1):183. doi: 10.1038/s41392-020-00230-7. PMID: 32900990Free PMC Article
Diabetes and Cognitive Impairment.
Zilliox LA, Chadrasekaran K, Kwan JY, Russell JW
Curr Diab Rep 2016 Sep;16(9):87. doi: 10.1007/s11892-016-0775-x. PMID: 27491830Free PMC Article
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.
Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A
Nat Commun 2024 Sep 4;15(1):7730. doi: 10.1038/s41467-024-51884-8. PMID: 39231983Free PMC Article
Impact of peroxisome proliferator-activated receptor-α on diabetic cardiomyopathy.
Wang L, Cai Y, Jian L, Cheung CW, Zhang L, Xia Z
Cardiovasc Diabetol 2021 Jan 4;20(1):2. doi: 10.1186/s12933-020-01188-0. PMID: 33397369Free PMC Article
Molecular mechanisms of hepatic lipid accumulation in non-alcoholic fatty liver disease.
Ipsen DH, Lykkesfeldt J, Tveden-Nyborg P
Cell Mol Life Sci 2018 Sep;75(18):3313-3327. Epub 2018 Jun 23 doi: 10.1007/s00018-018-2860-6. PMID: 29936596Free PMC Article
Oxidative stress in the trabecular meshwork (Review).
Zhao J, Wang S, Zhong W, Yang B, Sun L, Zheng Y
Int J Mol Med 2016 Oct;38(4):995-1002. Epub 2016 Aug 24 doi: 10.3892/ijmm.2016.2714. PMID: 27572245
Nuclear receptors and nonalcoholic fatty liver disease.
Cave MC, Clair HB, Hardesty JE, Falkner KC, Feng W, Clark BJ, Sidey J, Shi H, Aqel BA, McClain CJ, Prough RA
Biochim Biophys Acta 2016 Sep;1859(9):1083-1099. Epub 2016 Mar 4 doi: 10.1016/j.bbagrm.2016.03.002. PMID: 26962021Free PMC Article

Prognosis

The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression.
Chen L, Dai P, Liu L, Chen Y, Lu Y, Zheng L, Wang H, Yuan Q, Li X
Nat Commun 2024 Aug 21;15(1):7184. doi: 10.1038/s41467-024-51489-1. PMID: 39169021Free PMC Article
What are the epileptic encephalopathies?
Trivisano M, Specchio N
Curr Opin Neurol 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793. PMID: 32049741
Molecular Pathogenesis in Huntington's Disease.
Illarioshkin SN, Klyushnikov SA, Vigont VA, Seliverstov YA, Kaznacheyeva EV
Biochemistry (Mosc) 2018 Sep;83(9):1030-1039. doi: 10.1134/S0006297918090043. PMID: 30472941
Diabetes and Cognitive Impairment.
Zilliox LA, Chadrasekaran K, Kwan JY, Russell JW
Curr Diab Rep 2016 Sep;16(9):87. doi: 10.1007/s11892-016-0775-x. PMID: 27491830Free PMC Article
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827

Clinical prediction guides

α-Ketoglutarate prevents hyperlipidemia-induced fatty liver mitochondrial dysfunction and oxidative stress by activating the AMPK-pgc-1α/Nrf2 pathway.
Cheng D, Zhang M, Zheng Y, Wang M, Gao Y, Wang X, Liu X, Lv W, Zeng X, Belosludtsev KN, Su J, Zhao L, Liu J
Redox Biol 2024 Aug;74:103230. Epub 2024 Jun 13 doi: 10.1016/j.redox.2024.103230. PMID: 38875959Free PMC Article
Increased mitochondrial fission drives the reprogramming of fatty acid metabolism in hepatocellular carcinoma cells through suppression of Sirtuin 1.
Wu D, Yang Y, Hou Y, Zhao Z, Liang N, Yuan P, Yang T, Xing J, Li J
Cancer Commun (Lond) 2022 Jan;42(1):37-55. Epub 2022 Jan 4 doi: 10.1002/cac2.12247. PMID: 34981667Free PMC Article
Oxidative stress in the trabecular meshwork (Review).
Zhao J, Wang S, Zhong W, Yang B, Sun L, Zheng Y
Int J Mol Med 2016 Oct;38(4):995-1002. Epub 2016 Aug 24 doi: 10.3892/ijmm.2016.2714. PMID: 27572245
Diabetes and Cognitive Impairment.
Zilliox LA, Chadrasekaran K, Kwan JY, Russell JW
Curr Diab Rep 2016 Sep;16(9):87. doi: 10.1007/s11892-016-0775-x. PMID: 27491830Free PMC Article
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D
Biochem Cell Biol 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. PMID: 1724376

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