The LARS2 gene helps mitochondria, the parts of cells that make energy, build proteins they need to work properly. If this gene does not work well, cells with high energy needs can struggle, which may lead to hearing loss and, in some females, reduced ovarian function that can affect puberty or fertility. Some people with variants in the LARS2 gene also have balance, nerve, or learning-related features, while others have milder effects."
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes provide the information needed to produce proteins, which are the parts of cells that do much of the work. Other genes mainly guide when certain processes take place, where they happen, and how strongly they occur. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medicines. If you want to go into this topic in more detail, you can find more in the LearnHub.
Overview
LARS2Gene function
What if the gene works
The LARS2 gene helps mitochondria, the cell's energy makers, build certain proteins. This supports energy production, especially in tissues that need a lot of energy, such as the inner ear and ovaries.
Risk
What if the gene does not work
Variants in the LARS2 gene most often cause hearing loss and, in some people assigned female at birth, reduced ovarian function. Milder and more severe variants can differ in timing, and severe changes may also affect the body's energy supply.
Treatment
What does that mean for your treatment
No LARS2-specific treatment or drug selection approach is currently established for people with a pathogenic or loss-of-function variant in the LARS2 gene.
Conditions associated with LARS2
Gene function
What if the gene works
Your cells need a steady supply of energy for everyday work. The LARS2 gene supports protein making inside mitochondria, the parts of cells that generate most of that energy. Understanding how the LARS2 gene helps mitochondria make energy makes its day to day role easier to picture.
The LARS2 gene attaches the amino acid leucine to transfer RNA, a small carrier used during protein building in mitochondria. This prepares the right building block so leucine can be placed into a growing protein at the correct step.
Inside mitochondria, the LARS2 gene supports the process that turns genetic instructions into working proteins. Those proteins become key parts of the cell’s energy making machinery.
By helping mitochondria make their own proteins, the LARS2 gene supports steady energy production in many tissues. This helps cells keep up with routine demands throughout the day.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and how the body responds to environmental influences. Many variants have no noticeable effect and simply represent natural genetic variation. Sometimes, however, a variant changes how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Many LARS2 gene variants change the shape or stability of the protein, so it cannot properly attach leucine, a protein building block, to transfer RNA inside mitochondria, the cell's energy making parts. In plain terms, this is how LARS2 gene variants affect protein function and reduce mitochondrial protein production. Milder variants may leave some activity, while more severe variants can leave little or none. That difference often influences whether LARS2-related disease appears later and stays more limited, or starts earlier with broader features.
How variants are linked to conditions
Pathogenic variants in the LARS2 gene can cause Perrault syndrome, a rare inherited condition that usually includes sensorineural hearing loss and, in many females, ovarian insufficiency. Some people with LARS2-related Perrault syndrome also have balance, nerve, or learning difficulties, while others mainly have hearing loss. In practice, LARS2 gene variants linked to conditions are most strongly tied to this syndrome.
A variant is not necessarily a diagnosis
Gene variants are a usual part of human biology and are common across the general population. Most do not directly affect health and simply contribute to normal human diversity. For many genes, having a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well understood 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 LARS2 gene. Risk usually depends most on the exact gene change and whether a person has one changed copy or two, so personal guidance from a doctor or genetic counselor can help put results in context.
Inheritance of LARS2 variants
LARS2-related conditions are usually inherited in an autosomal recessive pattern. This means a person inherits one LARS2 variant from each parent, and the parents are often healthy carriers who each have one changed copy of the LARS2 gene. For each pregnancy, two carrier parents have a 25% chance of having a child with the condition, a 50% chance of having a child who is also a carrier, and a 25% chance of having a child with two usual copies. This is the main pattern seen when looking at how LARS2 variants are inherited.
What does my LARS2 result mean for my family?
For many families, a LARS2 result matters most for close relatives because LARS2-related conditions are usually inherited in a recessive way. That means parents are often healthy carriers, and brothers, sisters, or future children may also be carriers or, in some families, may be affected. Family members may want to learn whether the same gene change runs in the family, especially if there is hearing loss, problems with ovarian function, or similar health concerns.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the LARS2 gene, genetic testing for LARS2 variants uses a blood sample, saliva sample, or cheek swab to read the gene’s DNA code. Results can show whether a variant is present, absent, or unclear, helping clarify whether it fits your symptoms or family history.
When should I consider getting a genetic test?
Genetic testing for the LARS2 gene may be worth discussing if hearing loss runs in the family, especially when it starts early in life or is paired with delayed puberty, infertility, or periods stopping unusually early. It can also help clarify the cause when doctors suspect Perrault syndrome, a condition that affects hearing and ovary function.
A genetic result is only one part of your health story
Genetic findings can be informative, but how much they reveal varies with the condition and the type of variant present. Over time, many factors, including lifestyle, environment, age, and medical history, affect how the body functions. In some conditions, especially those influenced 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 can give a clear answer. In areas 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 your body responds to medicines. Small differences in genes can change how quickly a drug is broken down, how strongly it reaches its target, or how sensitive your body is to its effects. This helps explain why the same medication may work well for one person, seem less effective for another, or cause more side effects in someone else. These differences are common and are one reason medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics is the study of how genetic differences affect the way people respond to medications. It examines links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how strongly a drug works or how the body processes it. This information can help support treatment decisions that are more informed and more individualized. You can learn more about this topic in the LearnHub.
Drugs influenced by the LARS2 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work or which side effects are more likely. General questions about symptoms, treatment, or medication concerns are best discussed with your doctor or pharmacist.