This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages without signing in

Genetics

Authoring team

KSS is usually sporadic, and is caused by deletion or insertion mutations in the mitochondrial DNA:

The deletions:

  • never include the origins of DNA replication
  • up to 50% of cases are caused by a specific 5 kb deletion
  • each patient has a single mutant form of mtDNA because the mutation occurs early in development
  • the proportion of mutant mitochondria increases with time because the smaller genome replicates quicker

The insertions:

  • often the origins of DNA replication are duplicated; such mutant mtDNA accumulates because it is replicated twice as often

Rarely, KSS is inherited as an autosomal dominant trait. In these patients there are a wide variety of mtDNA deletions. It is thought that this form of the disease results from a defective nuclear gene which is involved in mtDNA replication.

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.