The PET117 gene helps mitochondria build complex IV, one of the cell’s main energy making parts. When both copies carry harmful variants, cells may not make enough energy, which can lead to a mitochondrial condition with developmental delay, low muscle tone, weakness, movement problems, or liver involvement. This gene plays an important role in organs that need a steady energy supply, especially the brain and muscles.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or direct processes in the body. Some genes provide the directions for making proteins, the parts of cells that do the work. Other genes mainly regulate when certain processes happen, where they happen, 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. To go deeper into this topic, you can find more in the LearnHub.
Overview
PET117Gene function
What if the gene works
The PET117 gene helps mitochondria assemble complex IV, a key part of the cell’s energy system. This supports efficient energy production, especially in tissues with high energy needs such as muscles and the brain.
Risk
What if the gene does not work
More severe variants in the PET117 gene can cause a rare mitochondrial disease with early developmental delay, muscle weakness, and liver problems. Milder variants may preserve some function and can lead to later onset or less severe features.
Treatment
What does that mean for your treatment
No PET117-specific treatment, targeted therapy, or drug-choice guidance is currently established in clinical guidelines for people with a pathogenic or loss-of-function variant in the PET117 gene.
Conditions associated with PET117
Gene function
What if the gene works
Inside your mitochondria, the PET117 gene supports a key step in how cells make energy. It helps assemble complex IV, an essential part of the system that uses oxygen to release usable energy from food. When this process runs smoothly, cells can keep up with routine work across the body.
The PET117 gene helps mitochondria build complex IV, a major part of the energy-making chain. This allows the system to come together in the right order and work smoothly.
By supporting complex IV, the PET117 gene helps cells make ATP (their main energy supply). This gives cells a steady source of usable energy for everyday activity.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These differences are common and are part of normal human diversity, including variations 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 a gene’s function more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
In discussions of how variants in the PET117 gene affect cell energy production, the key change is impaired assembly of mitochondrial complex IV (part of the cell's energy system), so cells make less energy. Milder variants may leave some protein activity, while more disruptive variants can sharply reduce or abolish it. This often leads to a wider range in how much complex IV function is lost and, in established PET117-related disease, how early symptoms appear.
How variants are linked to conditions
Pathogenic variants in the PET117 gene are a rare cause of mitochondrial complex IV deficiency, a genetic condition that often affects the brain and muscles. In reports describing PET117 gene variants linked to conditions, people have shown developmental delay, low muscle tone, movement problems, seizures, and lactic acidosis, though the pattern can vary. When disease-causing variants are found in both copies of the PET117 gene, that result can confirm this diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widespread in the general population. Most do not have a direct effect on health and instead reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a certain diagnosis, especially when more than one gene and environmental factors also play a role. In some situations, though, a single well characterized variant in a particular gene can be enough to confirm 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 PET117 gene. For families with a PET117 change, risk is mainly shaped by the genetic finding itself and family inheritance, and a doctor or genetic counselor can help explain personal risk.
Inheritance of PET117 variants
PET117-related conditions are inherited in an autosomal recessive pattern. This means a person usually develops the condition only if they inherit two changed copies of the PET117 gene, one from each parent. Parents who each carry one PET117 gene variant are typically unaffected carriers, and with each pregnancy they have a 25% chance of having an affected child, a 50% chance of having a child who is a carrier, and a 25% chance of having a child with two unchanged copies. In families asking how PET117 gene variants are inherited, this pattern applies equally to children of any sex.
What does my PET117 result mean for my family?
For families with a disease-causing PET117 result, close relatives may also be carriers, even if they feel well. Brothers and sisters could be affected or carry the same change, so the result can matter for siblings and for future children in the family. Parents are usually healthy carriers, and other relatives on both sides may also carry the variant.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for PET117 variants usually uses a blood or saliva sample to read the DNA in the PET117 gene. It can show whether you carry a variant in the PET117 gene and is often done as part of a broader panel or exome test when doctors are looking for an inherited cause of symptoms.
When should I consider getting a genetic test?
Consider PET117 testing if you or your child has signs of a rare inherited condition that affects how cells make energy, especially severe symptoms starting in infancy or a family history of similar illness. It may also help when other tests suggest a problem with complex IV, part of the cell’s energy-making system.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals depends on the condition and on the kind of variant involved. Over time, the way the body functions is shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially those affected 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 may offer a clear answer. In areas such as response to medication, 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. This is one reason the same medication may help one person a lot, help another person less, or cause more side effects in someone else. Small differences in genes can change how the body breaks down, moves, or responds to a drug, which can influence both treatment benefit and sensitivity.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect a person’s response to medications. It looks at gene-drug relationships to better understand 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 help support more informed, individualized treatment decisions. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the PET117 gene
When should I seek medical advice?
There is not currently a broadly confirmed role for this gene in guiding medication choices, so any concerns about symptoms, diagnosis, or how medicines may affect you are best discussed with your doctor.