The SLC25A42 gene gives your cells instructions for moving coenzyme A into mitochondria, the parts of cells that make energy. This gene helps your body keep energy production running, especially in the brain and muscles. When people carry pathogenic variants in both copies of the SLC25A42 gene, cells may struggle to make enough energy. This can lead to developmental delay, low muscle tone, movement problems, seizures, or lactic acidosis (a buildup of acid in the blood).
What is a gene?
A gene is a stretch of DNA that holds instructions your cells can use to make molecules or regulate processes in the body. Some genes provide the directions for making proteins, the parts of cells that do much of the work. Others mainly help control when certain processes happen, where they occur, and how strongly they operate. Taken together, genes influence how the body develops and functions, and they can shape how you respond to food, stress, or medications. For a more detailed look at this topic, you can find more information in the LearnHub.
Overview
SLC25A42Gene function
What if the gene works
Your cells use the SLC25A42 gene to move coenzyme A into mitochondria, the parts that make energy. This helps support energy production and the breakdown of fats and some amino acids.
Risk
What if the gene does not work
Variants in the SLC25A42 gene can cause a mitochondrial condition with developmental delay, seizures, and movement problems, sometimes with muscle weakness or episodes of lactic acidosis. Milder and more severe variants may affect when symptoms begin and how they appear.
Treatment
What does that mean for your treatment
No SLC25A42-specific treatment or drug-choice guideline is currently established for people with pathogenic variants in the SLC25A42 gene. The SLC25A42 gene is being studied in mitochondrial disease research, but this has not yet led to a proven targeted therapy.
Gene function
What if the gene works
Your mitochondria need a steady supply of coenzyme A, a helper molecule used to process fuel. The SLC25A42 gene provides instructions for a transporter that moves coenzyme A into these energy making parts of the cell. This transport is a key part of SLC25A42 gene function and supports routine energy use.
The SLC25A42 gene helps move coenzyme A into mitochondria, the parts of cells that make much of your energy. This gives mitochondria access to a helper molecule they need for many routine chemical reactions.
Inside mitochondria, coenzyme A is used to handle pieces of fats, sugars, and some amino acids as cells turn food into usable energy. By supplying this molecule where it is needed, the SLC25A42 gene supports steady energy production.
Coenzyme A also helps your cells build and break down important compounds in an orderly way. Through its transport protein, the SLC25A42 gene supports smooth mitochondrial metabolism during everyday cell activity.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and the way the body reacts to environmental influences. Many variants do not cause any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant can change how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC25A42 gene can change the transporter’s shape, stability, or activity, which may reduce how well mitochondria (the parts of cells that help make energy) take in coenzyme A, a helper molecule cells need. This explains how SLC25A42 gene variants affect mitochondrial transport. Some variants are milder and leave partial activity, while more disruptive variants can leave little or no transport function. In SLC25A42-related mitochondrial disease, lower remaining function often goes along with earlier onset or more pronounced features.
How variants are linked to conditions
Pathogenic variants in both copies of the SLC25A42 gene can cause a rare inherited mitochondrial condition. In reports on how SLC25A42 gene variants are linked to conditions, the main findings include developmental delay, seizures, movement problems, low muscle tone, muscle weakness, and episodes of lactic acidosis (high lactic acid in the blood). Some people are affected from infancy, while others develop symptoms later in childhood.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widespread across 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 definite diagnosis, particularly when more than one gene and environmental influences are part of the picture. 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 factors that increase or reduce health risk related to the SLC25A42 gene. For many living with a disease-causing change in this gene, risk is mainly shaped by the variant itself rather than day-to-day lifestyle factors, and a doctor or genetic counselor can help explain personal risk.
Inheritance of SLC25A42 variants
SLC25A42-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one SLC25A42 gene variant from each parent, and both parents are typically carriers who do not have the condition themselves. When both parents carry a variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a child who is a carrier, and a 25% chance of a child with neither familial variant. This pattern is the key point for understanding SLC25A42 inheritance.
What does my SLC25A42 result mean for my family?
For families, SLC25A42 results usually matter in a recessive pattern, which means parents can carry the changed gene without having symptoms themselves. Brothers and sisters may also be affected or may be healthy carriers, while more distant relatives could carry the same change as well. Family members may want to talk with their care team about whether the result could be relevant for them.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the SLC25A42 gene, doctors use SLC25A42 genetic testing, usually on a blood or saliva sample. A lab reads the gene's DNA code to see whether a variant is present. Results can confirm a relevant variant, rule one out, or find a variant whose meaning is still unclear.
When should I consider getting a genetic test?
Consider SLC25A42 testing if a child has unexplained developmental delay, low muscle tone, movement problems, or seizures, especially when doctors suspect a mitochondrial condition. It can also help if a close relative has a known SLC25A42 variant or a similar rare inherited condition.
A genetic result is only one part of your health story
A genetic finding may be informative, but how much it can explain varies based on the condition and the kind of variant involved. Lifestyle, environment, age, and medical history, among other factors, also shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result can give a clear answer. In areas like medication response, it may help make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same drug may work well for one person, cause more side effects in another, or seem to have little effect in someone else. A person’s genes can influence how the body absorbs, breaks down, transports, or responds to a medicine, and this kind of variation is common.
What is Pharmacogenetics?
Pharmacogenetics is an area of study focused on how differences in genes affect the way people respond to medicines. It examines links between genes and medications to better explain why the same treatment can have different effects in different people. With many drugs, genes can influence how powerful a medicine is or how the body handles it. Understanding this can support treatment choices that are more informed and more personalized. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the SLC25A42 gene
When should I seek medical advice?
There is not a broadly confirmed role for this gene in guiding medicine choices, so questions about side effects, new symptoms, or how a treatment is working are best discussed with your doctor.