Your cells use the DLST gene to help turn food into usable energy inside mitochondria, the parts of cells that act like power plants. If this gene does not work properly, cells may struggle to make energy in a steady way. Rare inherited variants in the DLST gene can increase the chance of certain nerve and adrenal gland tumors, especially pheochromocytoma and paraganglioma. Most variants in this gene have little or no effect on health.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or regulate processes in the body. Some genes provide the directions for producing proteins, which are the active parts of cells. Others mainly control when certain processes happen, where they happen, and how strongly they occur. Together, genes affect how the body develops and works, and they can shape how you respond to food, stress, or medications. For a closer look at this topic, you can learn more in the LearnHub.
Overview
DLSTGene function
What if the gene works
The DLST gene helps mitochondria turn nutrients into energy. Its protein is part of an enzyme complex that carries out a key step in the citric acid cycle, supporting normal cell function in tissues like the brain and muscles.
Risk
What if the gene does not work
Some variants in the DLST gene are linked to paraganglioma and pheochromocytoma, tumors in hormone producing nerve tissue. Milder and more severe variants can disrupt the gene to different degrees, which may influence whether tumors develop and when they appear.
Treatment
What does that mean for your treatment
At present, no treatment or drug choice is guided specifically by a pathogenic variant in the DLST gene, so care is based on the person’s symptoms and overall clinical picture. The DLST gene is being studied as a metabolic drug target and biomarker in some cancers, but this has not led to treatment approaches used in clinical guidelines.
Conditions associated with DLST
Gene function
What if the gene works
Your cells use the DLST gene to help make energy inside mitochondria, the parts of cells that make most cellular fuel. Its protein works in the citric acid cycle, a central pathway that turns nutrients into usable cell energy. This steady process supports everyday work in organs that need a constant energy supply, including the brain, muscles, and heart.
In mitochondria, the DLST gene helps run a key reaction in the citric acid cycle. This reaction allows cells to keep extracting energy from sugars, fats, and proteins.
Its protein transfers a small chemical group onto coenzyme A, making succinyl-CoA (a molecule used in the next energy step). This keeps energy production moving forward in an organized way.
The DLST protein forms part of the central core of a larger enzyme team. By holding the parts close together, it helps the reaction happen smoothly and reliably.
What is a variant?
A 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 reflect natural genetic variation. Sometimes, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the DLST gene can change mitochondrial enzyme activity by altering the protein’s shape, stability, or ability to join partner proteins. Milder variants may leave some activity, while more disruptive variants can sharply reduce or stop protein production altogether. This functional range can affect how much the cell’s energy processing is disrupted and may help explain why DLST related features vary from person to person.
How variants are linked to conditions
Rare pathogenic variants in the DLST gene are linked to an inherited tendency to develop paragangliomas and pheochromocytomas, tumors that arise from certain nerve cells and cells that make hormones. A confirmed pathogenic DLST variant can support the diagnosis of a hereditary paraganglioma-pheochromocytoma syndrome. The clearest findings on DLST gene variants linked to paraganglioma and pheochromocytoma come from rare families, and many other DLST variants found on testing are not known to cause disease.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and instead reflect the natural variation seen among people. In many genes, having a variant associated with a condition points to a possible link, not a confirmed diagnosis, particularly when several genes and environmental influences play a part. There are cases, though, where one well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For DLST, personal risk is mainly shaped by whether you carry a harmful variant in the gene and your family history. There is not yet broadly confirmed evidence that specific lifestyle or environmental factors clearly increase or reduce DLST-related risk.
Inheritance of DLST variants
For families looking into how variants of the DLST gene are inherited, the best-established pattern is autosomal dominant for DLST-related pheochromocytoma and paraganglioma susceptibility. This means a person can inherit the variant from either parent, and each child of a parent who carries a disease-causing DLST variant has a 50% chance of inheriting that same variant. Men and women can inherit it and pass it on equally.
What does my DLST result mean for my family?
Some inherited DLST changes are linked to a higher chance of developing certain nerve-related tumors, including paraganglioma and pheochromocytoma. These changes can run in families, so close relatives, such as parents, brothers, sisters, and children, may also carry the same result. That means family members may want to discuss whether family testing is appropriate for them.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the DLST gene, genetic testing for DLST variants reads DNA from a blood sample, saliva, or a cheek swab and looks for changes in that gene. It can confirm whether a specific variant is present and helps place the result in the context of your health and family history.
When should I consider getting a genetic test?
Consider DLST testing if you or close relatives have had paraganglioma or pheochromocytoma, which are rare hormone-making tumors that can grow near nerves or in the adrenal glands. Testing may be especially relevant when these tumors happen at a younger age, more than once, or in several family members.
A genetic result is only one part of your health story
Genetic results can provide meaningful information, but how much they reveal depends on the condition and the type of variant involved. Many other factors, including lifestyle, environment, age, and medical history, also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This happens because inherited differences can change how the body breaks down, transports, or responds to a drug. As a result, the same treatment may work better for some people, have less effect in others, or cause more side effects in some, and this kind of variation is common.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way a person responds 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 influence both how strongly a drug works and how the body processes it. This information can support more informed, more individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the DLST gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response, so questions about side effects, new symptoms, or whether a treatment is right for you are best discussed with your doctor.
History
In recent decades, awareness of this gene’s role has grown mainly within biochemical and rare disease research. DLST was identified during studies of the mitochondrial enzyme complexes that help cells process energy, as researchers worked out how these multi part systems are built. From these first observations, research expanded steadily, and scientists later mapped the DLST gene and clarified the protein it encodes. Interest increased further when inherited DLST variants were linked to a small number of people with paraganglioma and related tumors, bringing the gene into clinical genetics. Today, DLST is best known as part of that longer story connecting classic enzyme research with modern genetic testing.