The SLC25A22 gene gives cells instructions for moving glutamate, an important brain chemical and fuel, into mitochondria, the parts of cells that make energy. The protein made by this gene helps your cells support steady brain signaling and energy use. If a person inherits harmful variants in both copies of this gene, it can cause an early onset epilepsy condition, often with frequent seizures, developmental delay, and low muscle tone.
What is a gene?
Genes are stretches of DNA that carry instructions cells use to make molecules or guide activities in the body. Some provide the code for proteins, which do much of the work inside cells. Others 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 shape how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
SLC25A22Gene function
What if the gene works
The SLC25A22 gene helps move glutamate, an amino acid, into mitochondria, the parts of cells that make energy. This supports energy use and other routine cell activities, especially in the brain.
Risk
What if the gene does not work
More disruptive variants in the SLC25A22 gene can cause developmental and epileptic encephalopathy, often with seizures starting in newborns or infancy, feeding problems, and delayed development. Milder variants may lead to later onset or less severe symptoms.
Treatment
What does that mean for your treatment
No treatment or management approach specific to the SLC25A22 gene is currently established, so care follows the person’s symptoms and standard clinical practice. The SLC25A22 gene is also being studied as a possible biomarker and drug target in some cancers, especially colorectal cancer.
Conditions associated with SLC25A22
Gene function
What if the gene works
Your cells use the SLC25A22 gene to move glutamate into mitochondria, the parts of the cell that make energy. This supports steady energy use and helps cells manage important amino acids, especially in the brain. Understanding this normal SLC25A22 gene function makes its role in everyday cell activity easier to picture.
The SLC25A22 gene helps carry glutamate into mitochondria, the cell parts that produce energy. This gives cells access to an important fuel and building block in the right place.
Inside mitochondria, glutamate can feed the cell's energy system. This helps active cells, including many brain cells, keep up with routine demands.
This gene helps maintain the balance of glutamate and related amino acids inside cells. That balance supports the making of other useful molecules, including aspartate, for normal cell upkeep.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. 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. Sometimes, though, a variant changes how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Many SLC25A22 gene variants change the shape, stability, or placement of its transporter protein in mitochondria, the parts of cells that make energy. This can reduce or block glutamate movement across the mitochondrial membrane, so the protein works partly or not at all. In descriptions of how SLC25A22 gene variants affect protein function, milder variants may leave some activity, while more severe variants can cause near complete loss. That difference can be linked to earlier onset and severe epileptic encephalopathy.
How variants are linked to conditions
Pathogenic variants in both copies of the SLC25A22 gene cause SLC25A22-related developmental and epileptic encephalopathy, a rare condition that usually starts in the newborn period or early infancy. Children with this diagnosis often have frequent seizures, developmental delay, and low muscle tone. Some may also have feeding difficulties or changes seen on brain imaging.
A variant is not necessarily a diagnosis
Gene variants are a usual part of human biology and are common throughout the general population. Most variants do not have a direct effect on health and instead reflect natural human diversity. For many genes, carrying a variant connected with a condition suggests a possible association, not a definite diagnosis, especially when several genes and environmental factors are involved. 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 risk related to the SLC25A22 gene. For families with a disease-causing change in this gene, risk is mainly shaped by whether a child inherits the altered copies, rather than by lifestyle or everyday exposures.
Inheritance of SLC25A22 variants
SLC25A22-related conditions are inherited in an autosomal recessive pattern. This means a child usually develops the condition only when they inherit two disease-causing variants in the SLC25A22 gene, one from each parent. Parents who each carry one 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 neither variant. In practical terms, SLC25A22 inheritance usually means the gene change can be passed on by both sides of the family.
What does my SLC25A22 result mean for my family?
For families with an SLC25A22-related condition, the pattern is usually recessive, which means parents are often healthy carriers and brothers or sisters may also be carriers or, less often, have the condition. Close relatives may want to learn whether the family variant is present in them, especially when planning a pregnancy. The exact meaning for relatives depends on the specific result found in your family.
Genetic information
Genetic testing
How you find out about variants
Finding out whether you carry variants in the SLC25A22 gene usually involves genetic testing for SLC25A22 variants using a blood sample, saliva sample, or cheek swab. A laboratory reads the gene’s DNA sequence and reports whether a variant is linked to a genetic condition, remains uncertain, or is considered likely benign.
When should I consider getting a genetic test?
Testing for the SLC25A22 gene may be considered when a baby or young child has seizures starting very early in life, along with major delays in development or low muscle tone. It can also help when this condition runs in the family or when parents want to clarify the chance of it happening again in another pregnancy.
A genetic result is only one part of your health story
A genetic result can be helpful, but what it can tell you varies based on the condition and the specific type of variant. Other factors, including lifestyle, environment, age, and medical history, also shape how the body functions over time. In some conditions, especially those affected by many genes, genetic information offers context rather than certainty and is most useful when considered with other parts of care. In other situations, a genetic result may give a clear answer. For topics like medication response, genetic results can also help put personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small inherited differences can change how the body absorbs, breaks down, transports, or responds to a drug, so the same treatment may work better for one person than for another. These differences are common and can influence how much benefit someone gets from a medicine or how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics looks at how differences in a person’s genes shape their response to medications. By examining connections between genes and drugs, it helps clarify 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. More information about this topic is available in the LearnHub.
Drugs influenced by the SLC25A22 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work, so general concerns about side effects, treatment changes, or new symptoms are best discussed with your doctor.