Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Rita Xu + 571 word(s) 571 2020-12-15 07:32:16

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, R. Multiple Mitochondrial Dysfunctions Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4352 (accessed on 28 September 2026).
Xu R. Multiple Mitochondrial Dysfunctions Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4352. Accessed September 28, 2026.
Xu, Rita. "Multiple Mitochondrial Dysfunctions Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4352 (accessed September 28, 2026).
Xu, R. (2020, December 23). Multiple Mitochondrial Dysfunctions Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4352
Xu, Rita. "Multiple Mitochondrial Dysfunctions Syndrome." Encyclopedia. Web. 23 December, 2020.
Multiple Mitochondrial Dysfunctions Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome

Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.

genetic conditions

References

  1. Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I,Shoubridge EA, Robinson BH. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoaciddehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi:10.1016/j.ajhg.2011.08.011.
  2. Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, GrafE, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM,Meitinger T, Prokisch H. Homozygous missense mutation in BOLA3 causes multiplemitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis. 2013Jan;36(1):55-62. doi: 10.1007/s10545-012-9489-7.
  3. Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M,Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M,Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E,Briones P, Elpeleg O, Ribes A, Lill R. A fatal mitochondrial disease isassociated with defective NFU1 function in the maturation of a subset ofmitochondrial Fe-S proteins. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi:10.1016/j.ajhg.2011.10.005.
  4. Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A,Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH. A novel syndromeaffecting multiple mitochondrial functions, located by microcell-mediatedtransfer to chromosome 2p14-2p13. Am J Hum Genet. 2001 Feb;68(2):386-96.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 752
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 01 May 2021
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback