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Abnormality of the mitochondrion

MedGen UID:
892403
Concept ID:
C4023042
Anatomical Abnormality
Synonym: Mitochondrial abnormalities
 
HPO: HP:0012103

Definition

An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [from HPO]

Conditions with this feature

Peroxisome biogenesis disorder 2A (Zellweger)
MedGen UID:
763187
Concept ID:
C3550273
Disease or Syndrome
The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.

Professional guidelines

PubMed

Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Kato T
Psychiatry Clin Neurosci 2019 Sep;73(9):526-540. Epub 2019 May 23 doi: 10.1111/pcn.12852. PMID: 31021488
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent clinical studies

Etiology

Verma AK, Sharma A, Subramaniyam N, Gandhi CR
J Hepatol 2022 Nov;77(5):1410-1421. Epub 2022 Jun 28 doi: 10.1016/j.jhep.2022.06.019. PMID: 35777586
Zhang J, Bao Y, Zhou X, Zheng L
Reprod Biol Endocrinol 2019 Aug 16;17(1):67. doi: 10.1186/s12958-019-0509-4. PMID: 31420039Free PMC Article
Forbes JM, Thorburn DR
Nat Rev Nephrol 2018 May;14(5):291-312. Epub 2018 Feb 19 doi: 10.1038/nrneph.2018.9. PMID: 29456246
May-Panloup P, Boucret L, Chao de la Barca JM, Desquiret-Dumas V, Ferré-L'Hotellier V, Morinière C, Descamps P, Procaccio V, Reynier P
Hum Reprod Update 2016 Nov;22(6):725-743. Epub 2016 Aug 25 doi: 10.1093/humupd/dmw028. PMID: 27562289
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

Diagnosis

Naviaux RK
Mitochondrion 2023 May;70:131-163. Epub 2023 Apr 27 doi: 10.1016/j.mito.2023.04.003. PMID: 37120082
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free PMC Article
Falabella M, Vernon HJ, Hanna MG, Claypool SM, Pitceathly RDS
Trends Endocrinol Metab 2021 Apr;32(4):224-237. Epub 2021 Feb 24 doi: 10.1016/j.tem.2021.01.006. PMID: 33640250Free PMC Article
Rahman S
J Intern Med 2020 Jun;287(6):609-633. Epub 2020 Apr 7 doi: 10.1111/joim.13054. PMID: 32176382
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

Therapy

Kumar P, Liu C, Suliburk J, Hsu JW, Muthupillai R, Jahoor F, Minard CG, Taffet GE, Sekhar RV
J Gerontol A Biol Sci Med Sci 2023 Jan 26;78(1):75-89. doi: 10.1093/gerona/glac135. PMID: 35975308Free PMC Article
Wang Y, Qi H, Liu Y, Duan C, Liu X, Xia T, Chen D, Piao HL, Liu HX
Theranostics 2021;11(10):4839-4857. Epub 2021 Mar 4 doi: 10.7150/thno.56747. PMID: 33754031Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Macdonald R, Barnes K, Hastings C, Mortiboys H
Biochem Soc Trans 2018 Aug 20;46(4):891-909. Epub 2018 Jul 19 doi: 10.1042/BST20170501. PMID: 30026371
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

Prognosis

Yao L, Liang X, Qiao Y, Chen B, Wang P, Liu Z
Metabolism 2022 Jun;131:155195. Epub 2022 Mar 28 doi: 10.1016/j.metabol.2022.155195. PMID: 35358497
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Opazo-Ríos L, Mas S, Marín-Royo G, Mezzano S, Gómez-Guerrero C, Moreno JA, Egido J
Int J Mol Sci 2020 Apr 10;21(7) doi: 10.3390/ijms21072632. PMID: 32290082Free PMC Article
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
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Clinical prediction guides

Scandalis L, Kitzman DW, Nicklas BJ, Lyles M, Brubaker P, Nelson MB, Gordon M, Stone J, Bergstrom J, Neufer PD, Gnaiger E, Molina AJA
JAMA Cardiol 2023 Jun 1;8(6):575-584. doi: 10.1001/jamacardio.2023.0957. PMID: 37163294Free PMC Article
Lu JJ, Wu PF, He JG, Li YK, Long LH, Yao XP, Yang JH, Chen HS, Zhang XN, Hu ZL, Chen Z, Wang F, Chen JG
Mol Psychiatry 2023 Dec;28(12):5062-5076. Epub 2023 Mar 13 doi: 10.1038/s41380-023-02008-z. PMID: 36914810
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Gross EC, Lisicki M, Fischer D, Sándor PS, Schoenen J
Nat Rev Neurol 2019 Nov;15(11):627-643. Epub 2019 Oct 4 doi: 10.1038/s41582-019-0255-4. PMID: 31586135
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent systematic reviews

Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Amor H, Hammadeh ME
Genes (Basel) 2022 Jun 30;13(7) doi: 10.3390/genes13071182. PMID: 35885965Free PMC Article
Holden S, Maksoud R, Eaton-Fitch N, Cabanas H, Staines D, Marshall-Gradisnik S
J Transl Med 2020 Jul 29;18(1):290. doi: 10.1186/s12967-020-02452-3. PMID: 32727475Free PMC Article
Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M
Sci Rep 2016 Aug 10;6:30610. doi: 10.1038/srep30610. PMID: 27506553Free PMC Article
Spano M, Signorelli M, Vitaliani R, Aguglia E, Giometto B
Funct Neurol 2015 Jul-Sep;30(3):151-8. doi: 10.11138/fneur/2015.30.3.151. PMID: 26346695Free PMC Article

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