The NDUFS8 gene helps your mitochondria, the parts of cells that make energy, keep the body supplied with fuel. If the gene does not work properly, cells may struggle to make enough energy, especially in the brain, muscles, and heart. Pathogenic variants in the NDUFS8 gene are linked to a form of mitochondrial disease called complex I deficiency. People with this condition may have developmental delay, low muscle tone, movement problems, seizures, or trouble with growth and breathing.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the information needed to make proteins, the working parts of cells. Others mainly help determine when certain processes happen, where they take place, and how strongly they run. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. If you want to explore this topic in more depth, you can find more in the LearnHub.
Overview
NDUFS8Gene function
What if the gene works
The NDUFS8 gene helps build complex I, a key part of mitochondria, the parts of cells that make energy. This helps cells turn food and oxygen into usable energy, especially in the brain and muscles.
Risk
What if the gene does not work
Variants in the NDUFS8 gene can cause mitochondrial disease, most often Leigh syndrome, with problems in brain function, muscle tone, movement, and energy use. Milder to more severe variants may change when symptoms begin and how strongly different features appear.
Treatment
What does that mean for your treatment
No NDUFS8-specific treatment or drug selection approach is currently established for pathogenic variants in the NDUFS8 gene. Management is guided by a person’s symptoms and the broader mitochondrial condition rather than by a medicine chosen for this gene change.
Conditions associated with NDUFS8
Gene function
What if the gene works
Inside your mitochondria, the NDUFS8 gene helps your cells turn food into usable energy. This is part of how the NDUFS8 gene helps mitochondria make energy for the brain, muscles, and heart by supporting ATP production, the process that supplies the cell's main energy molecule.
Its protein helps move electrons, small energy carrying particles, through the first step of the mitochondria's energy chain. This passes energy onward so the cell can keep making ATP.
As energy moves through this step, mitochondria use it to shift hydrogen ions (tiny charged particles) across their inner membrane. This creates a stored energy difference that powers ATP production.
The NDUFS8 gene makes one of the core pieces of complex I, a large energy making protein group in mitochondria. This helps the system stay organized and work in a steady, controlled way.
What is a variant?
A genetic variant is a slight difference in the DNA sequence within a gene. These changes are common and help explain normal human diversity, such as differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the NDUFS8 gene can change the shape or stability of this complex I protein, making it harder for mitochondria to move electrons and produce energy. How NDUFS8 gene variants affect mitochondrial energy production varies: milder variants may leave some complex I activity, while more severe variants can strongly disrupt assembly or nearly abolish function. When both gene copies carry a more disruptive variant, symptoms often start earlier and can be more pronounced, as in mitochondrial complex I deficiency.
How variants are linked to conditions
Pathogenic variants in the NDUFS8 gene cause a form of mitochondrial complex I deficiency, often diagnosed as Leigh syndrome or a Leigh-like condition. In many affected children, this leads to early neurologic symptoms such as low muscle tone, developmental slowing, movement problems, seizures, or episodes of lactic acidosis. For families reading about NDUFS8 gene variants linked to conditions, this describes a rare inherited diagnosis rather than a common risk factor.
A variant is not necessarily a diagnosis
Variants in genes are a routine feature of human biology and are widespread in the general population. Most do not directly affect health and simply reflect normal human diversity. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences also play a part. In some situations, though, one well characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific lifestyle or environmental factors that increase or reduce health risks related to the NDUFS8 gene. Risk is mainly shaped by whether a person inherits harmful changes in this gene, so anyone concerned about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of NDUFS8 variants
Variants in the NDUFS8 gene are inherited in an autosomal recessive pattern. This means a child usually needs to inherit one altered copy of the NDUFS8 gene from each parent to have an NDUFS8-related condition, while parents who carry one altered copy are usually unaffected carriers. For families asking how NDUFS8 variants are inherited, when both parents are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child who inherits neither altered copy.
What does my NDUFS8 result mean for my family?
For families with a disease-causing change in the NDUFS8 gene, the pattern is usually recessive, which means close relatives may also be carriers even if they feel completely well. Brothers and sisters could also be affected or carry the same change, especially if both parents carry it. This can matter for future pregnancies and for relatives who want to understand their own chances of being carriers.
Genetic information
Genetic testing
How you find out about variants
NDUFS8 genetic testing looks for variants in the NDUFS8 gene using a blood or saliva sample. A lab reads the gene’s DNA code and checks for changes that may help confirm a diagnosis or explain symptoms. Results can show a disease causing variant, a harmless finding, or an uncertain result.
When should I consider getting a genetic test?
Consider testing for changes in the NDUFS8 gene if a child or adult has signs of a rare mitochondrial condition, such as developmental regression, muscle weakness, movement problems, seizures, or unexplained high lactate levels. Testing can also help when there is a family history of this condition or a known NDUFS8 gene 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 can tell you depends on the condition and the specific type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body functions. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as 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. Two people can take the same treatment at the same dose, yet one may get less benefit or feel stronger side effects because their body handles the drug differently. These inherited differences are common and can influence how medicines are absorbed, broken down, moved through the body, or act on their target.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect the way people respond to medications. It studies links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence 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. If you want to learn more about this topic, more information is available in the LearnHub.
Drugs influenced by the NDUFS8 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so any concerns about your health, treatment, or side effects are best discussed with your doctor or pharmacist.