English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B., et al. (2016). Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife, 5: e16078. doi:10.7554/eLife.16078.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/21.11116/0000-0000-C6C3-4 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C6C4-3
Genre: Journal Article

Files

show Files
hide Files
:
Hartmann.pdf (Publisher version), 5MB
Name:
Hartmann.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2016, Hartmann et al

Locators

show
hide
Description:
-

Creators

show
hide
 Creators:
Hartmann, B., Author
Wai, T., Author
Hu, H.1, Author
MacVicar, T., Author
Musante, L.1, Author              
Fischer-Zirnsak, B., Author
Stenzel, W., Author
Graf, R., Author
van den Heuvel, L., Author
Ropers, H. H.1, Author              
Wienker, T. F.2, Author              
Hübner, C., Author
Langer, T., Author
Kaindl, A. M., Author
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              

Content

show
hide
Free keywords: ATPases Associated with Diverse Cellular Activities Female *Homozygote Humans Male Metalloendopeptidases/*genetics Mitochondria/*pathology Mitochondrial Diseases/*genetics Mitochondrial Proteins *Mutation, Missense Optic Atrophy/*genetics *Opa1 *Yme1l1 *human *human biology *intellectual disability *medicine *mitochondrial fragmentation *mitochondriopathy *mouse *optic atrophy
 Abstract: Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans.

Details

show
hide
Language(s): eng - English
 Dates: 2016-08-062016
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.7554/eLife.16078
ISSN: 2050-084X (Electronic)
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: eLife
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Cambridge : eLife Sciences Publications
Pages: - Volume / Issue: 5 Sequence Number: e16078 Start / End Page: - Identifier: ISSN: 2050-084X
CoNE: https://pure.mpg.de/cone/journals/resource/2050-084X