The TMEM65 gene helps mitochondria, the energy making parts of cells, work properly, especially in the heart, muscles, and nervous system. This gene plays an important role in steady energy production. If the TMEM65 gene does not work properly, cells may struggle to make enough energy, and some people develop a rare inherited mitochondrial condition with muscle weakness, developmental delays, seizures, or heart problems.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or guide activities in the body. Some genes provide the code for proteins, which do the day to day work inside cells. Others mainly help regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can learn more in the LearnHub.
Overview
TMEM65Gene function
What if the gene works
The TMEM65 gene helps mitochondria, the parts of cells that make energy, work properly. It supports energy production and steady function in tissues with high energy needs, especially the heart, muscles, and nervous system.
Risk
What if the gene does not work
Biallelic variants in the TMEM65 gene can cause a mitochondrial condition with muscle weakness, developmental delay, and heart involvement; milder and more severe variants may affect when symptoms begin and how strongly the brain, muscles, and heart are affected.
Treatment
What does that mean for your treatment
At present, no TMEM65-specific treatment or management approach is established; care is supportive and based on the person’s symptoms rather than on a drug choice tied to the TMEM65 gene itself.
Gene function
What if the gene works
Your cells need a steady energy supply to keep muscles moving, nerves signaling, and organs working. The TMEM65 gene helps your mitochondria, the parts of cells that turn food into usable energy, run in an organized way. This background helps explain how the TMEM65 gene supports normal mitochondrial energy production.
TMEM65 works in the inner membrane of mitochondria, the parts of cells that make usable energy. It supports the chain of steps that lets cells turn fuel and oxygen into ATP, the cell’s main energy source.
Its protein sits within the mitochondrial inner membrane, where much of the cell’s energy making machinery is housed. By helping this membrane work in an orderly way, the TMEM65 gene supports steady everyday cell activity.
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 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
TMEM65 gene variants can change the protein's shape, lower how much is made, or disrupt how the cell edits the gene message, leaving less working protein in mitochondria, the cell's energy centers. More disruptive variants, such as those creating an early stop signal, often cause greater loss of function, while some one letter changes may leave partial activity. This helps show how TMEM65 gene variants affect protein function at different levels.
How variants are linked to conditions
Pathogenic variants in both copies of the TMEM65 gene cause a rare inherited mitochondrial disease, often described as mitochondrial myopathy or encephalomyopathy. Most evidence on variants in the TMEM65 gene and mitochondrial disease comes from families in which affected people had muscle weakness, developmental delay, seizures, or heart muscle disease (cardiomyopathy). In this setting, finding disease-causing variants in the TMEM65 gene can help confirm the diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of being human and are widely present in the general population. Most do not directly affect health and instead reflect normal human variation. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a specific 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 TMEM65 gene. For many living with a TMEM65-related change, risk is driven mainly by the specific gene change itself rather than by clear lifestyle or environmental factors, and a doctor or genetic counselor can help put personal and family risk in context.
Inheritance of TMEM65 variants
TMEM65-related conditions are inherited in an autosomal recessive pattern, which means a person usually inherits one altered copy of the TMEM65 gene from each parent. In families asking how TMEM65 gene variants are inherited, this usually means both parents are healthy carriers. When both parents carry a TMEM65 variant, each pregnancy has a 25% chance of the child inheriting both altered copies, a 50% chance of being a carrier, and a 25% chance of inheriting neither altered copy. This pattern applies equally to sons and daughters.
What does my TMEM65 result mean for my family?
TMEM65-related illness is usually passed down in a recessive pattern, so close relatives may also be carriers even if they feel completely well. Brothers and sisters could be affected or be carriers, while parents are often healthy carriers. For many families, this means the result may matter most for siblings and for relatives planning children.
Genetic information
Genetic testing
How you find out about variants
TMEM65 genetic testing looks for variants in the TMEM65 gene using a blood sample, saliva, or sometimes a cheek swab. Labs usually read the gene's DNA sequence, often through a panel or exome test, and may also check for missing or extra pieces of DNA to help confirm whether a TMEM65 variant is present.
When should I consider getting a genetic test?
Genetic testing may be considered when doctors suspect a rare inherited mitochondrial condition, especially in someone with unexplained muscle weakness, low muscle tone, developmental delay, or problems with the heart muscle or heartbeat that begin early in life. It can also be useful if a close relative has a known TMEM65 variant.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains varies with the condition and the kind of variant involved. How your body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, particularly those affected by many genes, genetic information offers context rather than certainty and makes the most sense when considered with the rest of a person’s care. In other situations, a genetic result can give a clear answer. In areas like response to medications, genetic results may also help put personal experiences into context.
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 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 how genetic variation affects the way people respond to medications. It studies links between genes and drugs to better explain why the same treatment can work differently from one person to another. For many medicines, genes influence either how strongly a drug works or 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 TMEM65 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how medicines work, so questions about side effects, new symptoms, or changes in treatment are best discussed with your doctor.