Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 10, 2025American Journal of Medical Genetics Part A

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO

View Full Paper
Ask AI
Bookmark
Share

Authors

ZMZainab Al MasseriHebron UniversityLGLaura GuilderHospital for Sick ChildrenMIMichal Inbar‐FeigenbergUniversity of Toronto

Discussion

Loading...

Member takes

Overview

Case report identifies a homozygous splice variant in atp5po leading to isolated mitochondrial deficiency, implying genetic links.

Key Points

  • The patient had isolated mitochondrial complex V deficiency associated with a homozygous splice variant in ATP5PO.
  • Whole-exome sequencing revealed a splice variant in ATP5PO, suggesting a potential genetic cause for her condition.
  • Mitochondrial respiratory chain analysis showed about 35% enzyme activity in fibroblasts compared to controls.
  • The results support ATP5PO's role in complex V assembly, highlighting the need for further genetic understanding.

Cite This Study

Masseri et al. (2025) studied this question.

synapsesocial.com/papers/68c193e99b7b07f3a0617c53https://doi.org/10.1002/ajmg.a.64239
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders2025
  2. 2COA5 has an essential role in the early stage of mitochondrial complex IV assembly2024
  3. 3A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy2007 · 119 citations
  4. 4Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies2024 · 38 citations
  5. 5ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish2025 · 4 citations