The MRPS22 gene gives cells instructions for part of the machinery that makes proteins inside mitochondria, the parts of cells that produce energy. This gene helps your body keep energy production running, especially in the brain, muscles, and other organs with high energy needs. If it does not work properly, cells may struggle to make enough energy, and severe variants in both copies of the gene can cause a rare mitochondrial condition. People with this condition may have poor growth, developmental delay, low muscle tone, feeding difficulties, or breathing problems.
What is a gene?
A gene is a stretch of DNA that carries instructions cells use to make molecules or manage processes in the body. Some genes provide the directions for producing proteins, which are the working parts of cells. Others mainly regulate when certain processes happen, where they take place, and how strongly they run. Taken together, genes affect how the body develops and functions, and they can also shape your response to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
MRPS22Gene function
What if the gene works
The MRPS22 gene helps your mitochondria, the parts of cells that make energy, build proteins. Its protein is part of the mitochondrial ribosome, which supports normal energy production in many tissues.
Risk
What if the gene does not work
When the MRPS22 gene does not work properly, it can cause a mitochondrial condition starting in infancy, with poor growth, low muscle tone, feeding difficulties, and developmental delay. Milder or more severe variants can affect symptom onset and severity.
Treatment
What does that mean for your treatment
No treatment or medication approach tailored to the MRPS22 gene is currently established for people with pathogenic variants in the MRPS22 gene.
Conditions associated with MRPS22
Gene function
What if the gene works
Your cells need the MRPS22 gene to help mitochondria, the parts of cells that make most of your energy, build a small set of key proteins. This is a routine step in how cells keep energy production running. Understanding what the MRPS22 gene does in the body helps explain how cells meet everyday energy needs.
Inside mitochondria, the MRPS22 gene helps form the small half of a protein-making machine. This lets cells read mitochondrial instructions and build proteins needed for energy production.
Its protein helps keep this mitochondrial protein-making machine properly put together. When the parts fit well, mitochondria can make their own proteins in a steady, organized way.
By supporting protein building in mitochondria, the MRPS22 gene helps cells run the energy system that powers muscles, nerves, and other active tissues. This supports organs that need a constant energy supply.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and are part of normal human diversity, including 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 cases, though, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Changes in the MRPS22 gene can destabilize part of the mitochondrial ribosome, so mitochondrial protein making becomes less efficient. This is how MRPS22 gene variants affect mitochondrial protein synthesis: some small changes leave a little activity, while variants that shorten the protein or disrupt how the gene message is read can have a stronger effect. Variants that reduce function more sharply are often linked to earlier and more severe mitochondrial disease.
How variants are linked to conditions
Pathogenic variants in the MRPS22 gene cause combined oxidative phosphorylation deficiency 5, a rare inherited mitochondrial condition. This MRPS22 gene condition usually begins in infancy or early childhood and may include developmental delay, poor growth, feeding difficulties, muscle weakness, lactic acidosis, and problems affecting the brain, heart, or kidneys. The pattern and severity can vary from one person to another.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology and are widely found across the general population. Most do not directly affect health and instead represent normal human variation. For many genes, having a variant associated with a condition points to a potential link rather than a confirmed diagnosis, particularly when several genes and environmental influences also play a role. In other situations, though, one well-characterized variant in a particular gene is enough to establish 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 MRPS22 gene. For MRPS22-related conditions, risk is mainly tied to whether someone inherits harmful changes in both copies of the gene, which is why family history can matter.
Inheritance of MRPS22 variants
MRPS22-related conditions are inherited in an autosomal recessive pattern, which means a person usually inherits one altered copy of the MRPS22 gene from each parent. In families asking how MRPS22 gene variants are inherited, this usually means both parents are healthy carriers. When both parents carry a variant, each pregnancy has a 25% chance of a child inheriting both altered copies, a 50% chance of being a carrier, and a 25% chance of inheriting neither altered copy. This pattern affects sons and daughters equally.
What does my MRPS22 result mean for my family?
Changes in the MRPS22 gene are linked to a rare inherited condition that usually runs in families in a recessive pattern. For family members, this often means parents can be healthy carriers, and brothers or sisters may also be affected or be carriers. Other close relatives may carry the same gene change too, especially on the same side of the family.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the MRPS22 gene, MRPS22 genetic testing usually analyzes DNA from a blood or saliva sample. Labs read the gene's code to look for changes and compare them with variants already linked to disease or found to be harmless, helping clarify whether a result may explain symptoms or carrier status.
When should I consider getting a genetic test?
Changes in the MRPS22 gene can cause a rare inherited condition that affects how the body makes energy, often starting in infancy or early childhood. Testing may be considered if a child has unexplained severe developmental delays, feeding problems, muscle weakness, high lactic acid levels, or a family history of a similar condition.
A genetic result is only one part of your health story
Genetic results can provide meaningful insight, although what they can tell you depends on the condition and the type of variant involved. Over time, how the body works is shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information offers 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 like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. A treatment that works well for one person may work less well for another, or may cause more side effects, because the body can absorb, break down, transport, or respond to a drug in different ways. These differences are common and can influence how strongly a medicine works or how sensitive someone is to it.
What is Pharmacogenetics?
Pharmacogenetics examines the way genetic differences shape how people respond to medicines. It focuses on gene drug patterns to help explain why the same treatment can affect one person differently than another. With many medications, genes influence both how powerfully a drug works and how the body handles it. This information can support treatment choices that are more informed and more tailored to the individual. More detail on this topic is available in the LearnHub.
Drugs influenced by the MRPS22 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 questions about treatments, side effects, or new health changes are best discussed with your doctor.