The NDUFAF6 gene helps your cells build complex I, an important part of the mitochondria, which are the cell’s energy makers. When this gene does not work properly, cells may struggle to make enough energy, especially in the brain and muscles. Understanding this gene can help clarify why some genetic results are linked to a mitochondrial condition. Pathogenic variants in the NDUFAF6 gene can cause features such as developmental delay, low muscle tone, movement problems, and Leigh syndrome in some children.
What is a gene?
Within DNA, genes are specific stretches that store instructions your cells use to make molecules or manage processes in the body. Some genes carry the information needed to produce proteins, the working parts of cells. Other genes mainly govern when particular processes take place, where they do so, and how strongly they run. Taken together, genes help shape how the body develops and functions, and they can influence how you respond to food, stress, or medicines. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
NDUFAF6Gene function
What if the gene works
The NDUFAF6 gene helps mitochondria, the cell's energy makers, build complex I, a key part of the system that turns food into energy. This supports steady energy supply for organs such as the brain and muscles.
Risk
What if the gene does not work
Pathogenic variants in the NDUFAF6 gene can cause mitochondrial complex I deficiency, often presenting as Leigh syndrome with low muscle tone, developmental delay, and brainstem problems. Milder or more severe variants may influence when symptoms begin and their severity.
Treatment
What does that mean for your treatment
For pathogenic or loss-of-function variants in the NDUFAF6 gene, no NDUFAF6-specific treatment or drug selection approach is currently established. Care is guided by the person’s symptoms and the usual supportive management used for mitochondrial disease, rather than by the specific NDUFAF6 variant.
Conditions associated with NDUFAF6
Gene function
What if the gene works
Your cells need a steady energy supply for everyday work. The NDUFAF6 gene helps mitochondria, the parts of cells that make energy, build one of their key energy making machines. When this process runs smoothly, cells can carry out mitochondrial energy production and make usable energy from food.
The NDUFAF6 gene helps your cells assemble complex I, an important part of the mitochondrial energy system. It supports early building steps so this large protein group can form in an organized way.
By helping build complex I, the NDUFAF6 gene supports the chain of reactions cells use to release energy from nutrients. This helps cells make ATP, the main energy currency used for daily tasks.
Inside mitochondria, the NDUFAF6 gene works with other helper proteins while the energy system is being put together. This coordination helps the final structure become ready for normal cell function.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. Sometimes, however, a variant changes how a gene functions to a greater extent and can contribute to, or cause, a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NDUFAF6 gene can disrupt how cells assemble mitochondrial complex I, a part of energy production, so the complex is reduced or unstable. Some changes mainly lower the amount or stability of the NDUFAF6 protein, while more severe variants may leave little or no working protein; this is how variants in the NDUFAF6 gene affect mitochondrial complex I assembly. When both gene copies are affected, disruptive variants are often linked to earlier and more marked Leigh syndrome features.
How variants are linked to conditions
Pathogenic variants in both copies of the NDUFAF6 gene are linked to Leigh syndrome and can confirm this rare diagnosis. This condition usually begins in infancy or childhood and often includes developmental delay or loss of skills, low muscle tone, feeding problems, and changes in breathing or movement.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a usual part of human biology. Most do not directly affect health and simply reflect normal human diversity. For many genes, a variant connected with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences contribute. In other situations, one well-characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For NDUFAF6, risk is mainly shaped by inheritance rather than lifestyle. A child’s chance of being born with an NDUFAF6-related condition is higher when both parents carry a changed copy of the gene, especially in families with a known history of the condition or where relatives have children together. There is not enough evidence to say that diet, exercise, or other daily habits change this genetic risk.
Inheritance of NDUFAF6 variants
Variants in the NDUFAF6 gene are inherited in an autosomal recessive pattern. This means a child usually inherits one changed copy of the NDUFAF6 gene from each parent, while the parents are typically carriers who do not have the condition themselves. When both parents carry a disease-causing variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with two working copies. In practical terms, NDUFAF6 gene inheritance affects sons and daughters equally, and either parent can pass the variant on.
What does my NDUFAF6 result mean for my family?
For families with a disease-causing change in the NDUFAF6 gene, close relatives may also carry the same change even if they feel well. Brothers and sisters may be affected or may be healthy carriers, and other relatives may also carry it. Family members sometimes choose to learn their own genetic status, especially when planning a pregnancy.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the NDUFAF6 gene, NDUFAF6 genetic testing uses a blood or saliva sample to read the gene's DNA code. It can examine this gene by itself or as part of a larger panel or exome test. Finding disease-causing variants in both copies can help confirm an inherited mitochondrial condition.
When should I consider getting a genetic test?
Consider testing the NDUFAF6 gene when a child or adult has signs of a rare energy-production condition such as developmental delay, loss of skills, muscle weakness, or brain changes that suggest Leigh syndrome. Testing can also help when this condition runs in the family or when parents want to clarify the chance for another affected child.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it reveals depends on the condition and the type of variant involved. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it into tissues, or responds to it at its target. That is one reason the same medication may work well for one person, have less effect in another, or cause more side effects in someone who is more sensitive.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic variation can shape a person’s response to medication. By looking at relationships between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes affect both how strongly a drug works and how the body processes it. This information can support treatment decisions that are more informed and more individualized. You can read more about this topic in the LearnHub.
Drugs influenced by the NDUFAF6 gene
When should I seek medical advice?
There is not yet a widely accepted role for this gene in predicting how someone will respond to medicines. If you have concerns about side effects, how well a treatment is working, or your overall health, talk with your doctor or pharmacist.