The NDUFA6 gene helps your cells make energy inside mitochondria, the parts of cells that act as the body’s power supply. If you carry a harmful variant that disrupts this gene, cells may not produce enough energy, and this can lead to a mitochondrial condition that may affect the brain, muscles, heart, and growth. Some people with NDUFA6-related disease develop low muscle tone, weakness, movement problems, developmental delay, seizures, or feeding difficulties.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or regulate activities in the body. Some genes carry the directions for producing proteins, the parts of cells that do much of the work. Other genes mainly control when certain processes happen, where they take place, and how active they are. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can learn more in the LearnHub.
Overview
NDUFA6Gene function
What if the gene works
Your cells use the NDUFA6 gene to help mitochondria make energy from food. It supports complex I, an early step in the cell’s energy pathway, so tissues like the brain, muscles, and heart can work normally.
Risk
What if the gene does not work
More disruptive variants in the NDUFA6 gene can reduce mitochondrial energy production and cause complex I deficiency. Effects may appear in infancy or childhood and range from developmental delay and low muscle tone to movement, brain, or heart problems.
Treatment
What does that mean for your treatment
For pathogenic variants in the NDUFA6 gene, no gene-specific treatment or management approach is currently established, so care is based on the person’s symptoms and the broader management used for mitochondrial disease.
Conditions associated with NDUFA6
Gene function
What if the gene works
Your cells need a steady energy supply to power movement, thinking, and other daily tasks. The NDUFA6 gene helps mitochondria, the energy making parts of cells, run an early step in this process. Seeing how the NDUFA6 gene helps mitochondria make energy can make its day to day role easier to understand.
NDUFA6 helps complex I carry out the first major step in mitochondrial energy production. By supporting electron flow, it helps cells begin turning energy from food into usable fuel.
As this step runs, NDUFA6 helps complex I build a small charge difference across the inner mitochondrial membrane. Your cells use that stored energy to make ATP, the molecule they rely on for most everyday work.
This gene supports the proper structure and steady function of complex I within the cell’s energy making system. That stable setup helps tissues with high energy needs, such as the brain, heart, and muscles, keep working smoothly.
What is a variant?
A genetic variant is a slight change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some cases, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NDUFA6 gene can weaken or destabilize a small part of mitochondrial complex I, so cells make energy less efficiently. Some changes mainly lower how much NDUFA6 protein is made or how well it fits into the complex, while more disruptive variants can stop assembly almost completely. This spectrum helps explain how NDUFA6 gene variants affect mitochondrial complex I and why NDUFA6-related mitochondrial disease may be milder in some people and appear earlier or more strongly in others.
How variants are linked to conditions
Pathogenic variants in the NDUFA6 gene can cause a rare inherited condition called mitochondrial complex I deficiency, and some affected children are diagnosed with Leigh syndrome. Reported features include developmental delay, low muscle tone, feeding difficulty, movement problems, seizures, and sometimes heart involvement. The NDUFA6 gene variants linked to conditions are usually rare pathogenic variants, not common genetic differences found in the general population.
A variant is not necessarily a diagnosis
Variants in genes are a routine part of human biology and are widely found across the population. Most do not directly affect health and simply contribute to natural human variation. For many genes, having a variant associated with a condition points to a possible link rather than a confirmed diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well understood variant in a particular gene is enough to establish a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the NDUFA6 gene. In families with a disease-causing change in NDUFA6, risk is mainly shaped by the genetic change itself rather than lifestyle or everyday exposures.
Inheritance of NDUFA6 variants
NDUFA6-related conditions are inherited in an autosomal recessive pattern. In practical terms, NDUFA6 inheritance usually means a child develops the condition only when they receive one disease-causing variant in the NDUFA6 gene from each parent. Parents who each carry one variant are typically unaffected, and with each pregnancy there is a 25% chance the child will inherit both variants, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant. This pattern affects sons and daughters equally.
What does my NDUFA6 result mean for my family?
For families with a disease-causing change in the NDUFA6 gene, the pattern is usually recessive, which means close relatives may also carry the same gene change even if they do not have symptoms. Brothers and sisters could be affected or could be healthy carriers, and other blood relatives may also carry it. Family members sometimes choose genetic counseling or testing to clarify their own chance of being a carrier.
Genetic information
Genetic testing
How you find out about variants
NDUFA6 genetic testing usually uses a blood or saliva sample. A lab reads the NDUFA6 gene with sequencing, often as part of a mitochondrial disease or whole exome panel, to look for variants. Results may show a disease-causing variant, a benign variant, or a variant of uncertain significance.
When should I consider getting a genetic test?
Consider testing for the NDUFA6 gene when a baby or child has signs of a rare condition that keeps cells from making enough energy, such as severe developmental delay, low muscle tone, feeding trouble, seizures, or high acid levels in the blood. Testing can also help when there is a family history of mitochondrial disease or a known NDUFA6 change in the family.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals varies by the condition and the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body works over time. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is best viewed alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, seems weaker in another, or causes more side effects in someone else. Part of the reason is that the body can absorb, break down, move, or respond to a drug differently based on inherited gene changes, and this kind of variation is common.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes affect the way medications work. It studies gene-drug patterns to understand more clearly why the same treatment can have different effects in different people. With many medicines, genes influence both how much effect a drug has and how the body handles it. This information can support treatment decisions that are more informed and tailored to the individual. To explore this subject further, more information is available in the LearnHub.
Drugs influenced by the NDUFA6 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how medicines are chosen or used, so questions about treatments, side effects, or changes in your health are best discussed with your doctor or pharmacist.