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Abnormal mitochondrial number

MedGen UID:
868642
•Concept ID:
C4023043
•
Anatomical Abnormality
HPO: HP:0012102

Definition

A deviation from the normal number of mitochondria per cell. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal mitochondrial number

Professional guidelines

PubMed

Targeted mitochondrial drugs for treatment of myocardial ischaemia-reperfusion injury.
Peng JF, Salami OM, Lei C, Ni D, Habimana O, Yi GH
J Drug Target 2022 Sep;30(8):833-844. Epub 2022 Jun 28 doi: 10.1080/1061186X.2022.2085728. PMID: 35652502
Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Nonalcoholic fatty liver disease (NAFLD) from pathogenesis to treatment concepts in humans.
Pafili K, Roden M
Mol Metab 2021 Aug;50:101122. Epub 2020 Nov 19 doi: 10.1016/j.molmet.2020.101122. PMID: 33220492Free PMC Article

Recent clinical studies

Etiology

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Nonalcoholic fatty liver disease (NAFLD) from pathogenesis to treatment concepts in humans.
Pafili K, Roden M
Mol Metab 2021 Aug;50:101122. Epub 2020 Nov 19 doi: 10.1016/j.molmet.2020.101122. PMID: 33220492Free PMC Article
Emerging cellular and molecular determinants of idiopathic pulmonary fibrosis.
Phan THG, Paliogiannis P, Nasrallah GK, Giordo R, Eid AH, Fois AG, Zinellu A, Mangoni AA, Pintus G
Cell Mol Life Sci 2021 Mar;78(5):2031-2057. Epub 2020 Nov 17 doi: 10.1007/s00018-020-03693-7. PMID: 33201251Free PMC Article
Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article

Diagnosis

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Friedman JM, van Essen P, van Karnebeek CDM
Mol Genet Metab 2022 Dec;137(4):399-419. Epub 2021 Nov 8 doi: 10.1016/j.ymgme.2021.11.001. PMID: 34872807
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Fahr's syndrome: literature review of current evidence.
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, Rehmani MA
Orphanet J Rare Dis 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156. PMID: 24098952Free PMC Article

Therapy

Supplementing Glycine and N-Acetylcysteine (GlyNAC) in Older Adults Improves Glutathione Deficiency, Oxidative Stress, Mitochondrial Dysfunction, Inflammation, Physical Function, and Aging Hallmarks: A Randomized Clinical Trial.
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
The double-edged roles of ROS in cancer prevention and therapy.
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
Emerging cellular and molecular determinants of idiopathic pulmonary fibrosis.
Phan THG, Paliogiannis P, Nasrallah GK, Giordo R, Eid AH, Fois AG, Zinellu A, Mangoni AA, Pintus G
Cell Mol Life Sci 2021 Mar;78(5):2031-2057. Epub 2020 Nov 17 doi: 10.1007/s00018-020-03693-7. PMID: 33201251Free PMC Article
Riboflavin and health: A review of recent human research.
Thakur K, Tomar SK, Singh AK, Mandal S, Arora S
Crit Rev Food Sci Nutr 2017 Nov 22;57(17):3650-3660. doi: 10.1080/10408398.2016.1145104. PMID: 27029320
Sulforaphane treatment of autism spectrum disorder (ASD).
Singh K, Connors SL, Macklin EA, Smith KD, Fahey JW, Talalay P, Zimmerman AW
Proc Natl Acad Sci U S A 2014 Oct 28;111(43):15550-5. Epub 2014 Oct 13 doi: 10.1073/pnas.1416940111. PMID: 25313065Free PMC Article

Prognosis

AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer.
Liu L, Gao J, Liu X, Zhang F, Hu B, Zhang H, Wang Z, Tang H, Shi JH, Zhang S
Cancer Med 2023 Dec;12(23):21531-21544. Epub 2023 Nov 21 doi: 10.1002/cam4.6682. PMID: 37990642Free PMC Article
RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
Zhang J, Gong L, Zhu H, Sun W, Tian J, Zhang Y, Liu Q, Li X, Zhang F, Wang S, Zhu S, Ding D, Zhang W, Yang C
Neurobiol Dis 2023 Nov;188:106344. Epub 2023 Nov 4 doi: 10.1016/j.nbd.2023.106344. PMID: 37926169
Melatonin and Epilepsy.
Vasileva Z
Folia Med (Plovdiv) 2021 Dec 31;63(6):827-833. doi: 10.3897/folmed.63.e58637. PMID: 35851222
Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Proteogenomic characterization of human colon and rectal cancer.
Zhang B, Wang J, Wang X, Zhu J, Liu Q, Shi Z, Chambers MC, Zimmerman LJ, Shaddox KF, Kim S, Davies SR, Wang S, Wang P, Kinsinger CR, Rivers RC, Rodriguez H, Townsend RR, Ellis MJ, Carr SA, Tabb DL, Coffey RJ, Slebos RJ, Liebler DC; NCI CPTAC
Nature 2014 Sep 18;513(7518):382-7. Epub 2014 Jul 20 doi: 10.1038/nature13438. PMID: 25043054Free PMC Article

Clinical prediction guides

The Role of Immunometabolism in the Pathogenesis of Systemic Lupus Erythematosus.
Robinson GA, Wilkinson MGL, Wincup C
Front Immunol 2021;12:806560. Epub 2022 Jan 26 doi: 10.3389/fimmu.2021.806560. PMID: 35154082Free PMC Article
Mutant APP and amyloid beta-induced defective autophagy, mitophagy, mitochondrial structural and functional changes and synaptic damage in hippocampal neurons from Alzheimer's disease.
Reddy PH, Yin X, Manczak M, Kumar S, Pradeepkiran JA, Vijayan M, Reddy AP
Hum Mol Genet 2018 Jul 15;27(14):2502-2516. doi: 10.1093/hmg/ddy154. PMID: 29701781Free PMC Article
Diabetes and branched-chain amino acids: What is the link?
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Sulforaphane treatment of autism spectrum disorder (ASD).
Singh K, Connors SL, Macklin EA, Smith KD, Fahey JW, Talalay P, Zimmerman AW
Proc Natl Acad Sci U S A 2014 Oct 28;111(43):15550-5. Epub 2014 Oct 13 doi: 10.1073/pnas.1416940111. PMID: 25313065Free PMC Article
Proteogenomic characterization of human colon and rectal cancer.
Zhang B, Wang J, Wang X, Zhu J, Liu Q, Shi Z, Chambers MC, Zimmerman LJ, Shaddox KF, Kim S, Davies SR, Wang S, Wang P, Kinsinger CR, Rivers RC, Rodriguez H, Townsend RR, Ellis MJ, Carr SA, Tabb DL, Coffey RJ, Slebos RJ, Liebler DC; NCI CPTAC
Nature 2014 Sep 18;513(7518):382-7. Epub 2014 Jul 20 doi: 10.1038/nature13438. PMID: 25043054Free PMC Article

Recent systematic reviews

Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.
Frye RE, Rincon N, McCarty PJ, Brister D, Scheck AC, Rossignol DA
Neurobiol Dis 2024 Jul;197:106520. Epub 2024 May 3 doi: 10.1016/j.nbd.2024.106520. PMID: 38703861
Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
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
Sperm mitochondrial DNA copy numbers in normal and abnormal semen analysis: A systematic review and meta-analysis.
Popova D, Bhide P, D'Antonio F, Basnet P, Acharya G
BJOG 2022 Aug;129(9):1434-1446. Epub 2022 Jan 18 doi: 10.1111/1471-0528.17078. PMID: 34954901
Paternal obesity negatively affects male fertility and assisted reproduction outcomes: a systematic review and meta-analysis.
Campbell JM, Lane M, Owens JA, Bakos HW
Reprod Biomed Online 2015 Nov;31(5):593-604. Epub 2015 Aug 10 doi: 10.1016/j.rbmo.2015.07.012. PMID: 26380863
Glucocorticosteroids for primary biliary cirrhosis.
Prince M, Christensen E, Gluud C
Cochrane Database Syst Rev 2005 Apr 18;2005(2):CD003778. doi: 10.1002/14651858.CD003778.pub2. PMID: 15846681Free PMC Article

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