Do mitochondrial DNA mutations relate to autism?

PostedNovember 20, 2025

UpdatedNovember 20, 2025

ByMy Patient Advice

Author: Lucia Alvarez, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

Yes, growing evidence suggests that mitochondrial DNA mutations may contribute to the development of autism (in some individuals. Mitochondria are the energy-producing parts of our cells, and they carry their own DNA separate from the nuclear genome. When this mitochondrial DNA is mutated, it can impair the body’s ability to produce the energy needed for brain development and function.

Children with mitochondrial dysfunction often present with symptoms that overlap with autism, including speech delays, sensory sensitivities, fatigue and motor coordination issues. While mitochondrial disorders are rare, studies indicate they are more prevalent among autistic individuals than in the general population, suggesting a genetic connection worth exploring. Unlike most genes, mitochondrial DNA is passed down exclusively from the mother, adding a unique inheritance pattern to the picture of autism risk.

How Mitochondrial Mutations Influence Autism

Here are two ways mitochondrial DNA mutations may contribute to autism:

Disrupt energy production in brain cells

The brain is highly energy-dependent, especially during early development. Mutations in mitochondrial DNA can reduce the energy supply needed for neural signalling and growth, potentially affecting cognitive and behavioural outcomes.

Lead to multi-system effects beyond the brain

Because mitochondria support all cells, dysfunction can result in a combination of physical and neurological symptoms. This broader impact is sometimes seen in individuals with autism and comorbid conditions such as muscle weakness or gastrointestinal issues.

Understanding the role of mitochondrial DNA mutations in autism expands the search for tailored interventions and highlights the importance of screening when mitochondrial signs are present. Visit providers like Autism Detect for personal consultations and further guidance on screening and support.

For a deeper dive into the science, diagnosis and full treatment landscape, read our complete guide to Genetic Influences.

Lucia Alvarez, MSc

Author

Lucia Alvarez is a clinical psychologist with a Master’s in Clinical Psychology and extensive experience providing evidence-based therapy and psychological assessment to children, adolescents, and adults. Skilled in CBT, DBT, and other therapeutic interventions, she has worked in hospital, community, and residential care settings. Her expertise includes grief counseling, anxiety management, and resilience-building, with a strong focus on creating safe, supportive environments to improve mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the author's privacy.

Dr. Rebecca Fernandez, MBBS

Reviewer

Dr. Rebecca Fernandez is a UK-trained physician with an MBBS and experience in general surgery, cardiology, internal medicine, gynecology, intensive care, and emergency medicine. She has managed critically ill patients, stabilised acute trauma cases, and provided comprehensive inpatient and outpatient care. In psychiatry, Dr. Fernandez has worked with psychotic, mood, anxiety, and substance use disorders, applying evidence-based approaches such as CBT, ACT, and mindfulness-based therapies. Her skills span patient assessment, treatment planning, and the integration of digital health solutions to support mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the reviewer's privacy.