• Facebook
  • Instagram
  • Twitter

Get Support – Call 1-888-MITO-411

  • Shop
  • Events
  • Donate
MitoAction

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

  • Mitochondrial Disease
    • About Mito
      • New Patient Kit
      • Types of Mitochondrial Diseases
      • Symptoms
      • Treatment
      • Mito FAQ’s
      • Mitochondrial Disease News
    • Diagnosis & Care
      • Diagnosing Mitochondrial Disease
      • Find a Mito Doctor
      • What is a Mito Cocktail?
      • Mito Sick Protocol
      • Clinical Trials & Studies
    • Day to Day with Mito
      • Living with Mitochondrial Disease
      • Care Management
      • Managing Your Energy
      • Traveling with Mito
      • Navigating COVID-19
    • For Medical Professionals
      • Mitochondrial Care Network
      • Monthly Expert Series
  • Fatty Acid Oxidation Disorders
    • About FAODs
      • Types of FAOD
      • Symptoms
      • Diagnosis
      • Treatment
    • FAOD Programs and Support
      • New Patient Kit
      • FAOD Support Calls
      • FAOD Experts Series
      • FAOD Resources
      • International Metabolic Conference
  • Programs & Support
    • Support
      • Mito411
      • MitoAction Memories
      • MitoPlaydates
      • MitoSocials
      • MitoChampions
      • Support Calls
      • Positive Peach Packages
    • Programs
      • Dalia’s Wish
      • Matthew Harty Camper Fund
      • Marcel’s Way Family Fund
      • MitoSantas
      • MyMito App
    • Education
      • Monthly Expert Series
      • Wondering Wednesdays
      • Energy In Action Podcast
      • Energy 4 Education
      • Patient Education Forums
      • International Metabolic Conference
    • Resources & Planning
      • Health Insurance
      • Disability Benefits
      • Mobility Devices
      • Vehicle Modification
      • Estate Planning
      • Medical Child Abuse
  • Join the Cause
    • Giving
      • Donate
      • Honor and Memorial Giving
      • Another Helping
      • Matching Gifts
      • Shop for MitoAction
      • Giving Tuesday – Ways to Give
    • Events
      • International Metabolic Conference
      • MitoAction Energy Walks
      • Sandra K. Russell Derby Day Benefit for Mito
      • Matthew Harty Camper Fund Events
    • Volunteer
      • Host a MitoSocial
      • Host a MitoPlaydate
      • Create a Fundraiser
      • MitoChampions
      • Share Your Ideas
    • Raise Your Voice
      • Take Legislative Action
      • Mitochondrial Disease Awareness Week
      • Light a Light
  • About Us
    • Contact Us
    • Connect on Social
    • Our Team
    • Meet Our Partners
    • Newsletter Signup
  • Show Search

What Causes Mitochondrial Disease?

Print Friendly, PDF & Email

For many patients, mitochondrial disease is an inherited genetic condition. Mutations can also be spontaneous as well as be induced.

A patient may be found to have a de novo variant, or new mutation, meaning that the mutation arose in this patient early in development and was not passed down from a parent or previous generations.

An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.

It is important to determine which type of mitochondrial disease inheritance is present in order to pre- dict the risk of recurrence for future children. The types of mitochondrial disease inheritance include:

Nuclear DNA (nDNA) inheritance:

  •  nDNA is contained in the nucleus of the cell. This type of inheritance is also called, “autosomal inheritance.”
  • If the gene trait is recessive, often no family members appear to be affected. Two recessive mutations, one from each parent, are needed to express the disease. If parents both share the same recessive gene for a particular type of mitochondrial disease, 25% of children will get both mutated genes and have the disease, 25% will get no mutated genes and be healthy, and 50% will get a single mutation and be considered a “carrier.” Carriers, like their parents, present healthy but could pass the mutation to their offspring.
  • If the gene trait is dominant, the disease may occur in other family members. There is a 50 percent chance of the trait occurring in other siblings/ offspring.
  • Mitochondrial DNA (mtDNA) inheritance is contained in the mitochondria of the cell. There is a 100 percent chance of the trait occurring in other siblings because all of the mitochondria are inherited from the mother. Symptoms may be more or less severe due to heteroplasmy. Higher rates of heteroplasmy are typically associated with more severe disease.

Combination of mtDNA and nDNA defects:

  • The relationship between nDNA and mtDNA and their correlation in mitochondrial formation is a new area of study. It is believed that MtDNA and nDNA communicate with each other. Researchers think that such interactions may regulate the expression of particular sets of genes. This communication may explain how mitochondria are involved in cellular processes not related to energy generation, such as cell growth and death.

Random occurrences

  • Diseases specifically from deletions of large parts of the mtDNA molecule are usually sporadic without affecting other family members.
  • Medicines or other toxic substances can trigger mitochondrial disease.
  • How Common is Mitochondrial Disease?
  • How is Mitochondrial Disease Treated?
  • How to Diagnose Mitochondrial Disease
  • What are Mitochondria?
  • What are the Challenges of Living with Mitochondrial Disease?
  • What are the Symptoms of Mitochondrial Disease?
  • What Causes Mitochondrial Disease?

Upcoming
Events

View All
Oct 5
6:00 pm - 7:00 pm Event Series

CPEO & Me

Oct 6
1:15 pm - 2:15 pm

Weekly Support Call

Oct 10
8:30 pm - 9:30 pm Event Series

Our Space: A space for young adults with Mito and FAODs to connect and network

View Calendar

Expert
Series

View All

Upcoming Presentations

Nov 1
7:00 pm - 8:00 pm

Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment

Nov 3
12:00 pm - 1:00 pm

Expert Series: Immune Cell Function in Mitochondrial Disease

View Calendar

Last Presentation

Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction
Presented July 25, 2023

P.O. Box 310
Novi, MI 48376
(888) 648-6228
info@mitoaction.org

  • Support
  • Resources
  • Donate
  • Events
  • Subscribe
©2023 MitoAction. All Rights Reserved. Website by ThinkGenetic, Inc.

Privacy Policy. Terms of Use.