The TMEM70 gene helps mitochondria, the energy making parts of cells, build an enzyme needed to produce ATP, the body’s main energy source. This gene plays an important role in keeping high energy organs like the heart, brain, and muscles working. If both copies of the TMEM70 gene do not work properly, a person can develop a rare inherited mitochondrial condition with low muscle tone, feeding and growth problems, heart issues, and delayed development. Symptoms often begin in infancy.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or direct processes throughout the body. Some genes carry the information needed to produce proteins, the parts of cells that do the work. Others mainly regulate when certain processes happen, where they take place, and how active they are. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
TMEM70Gene function
What if the gene works
The TMEM70 gene helps mitochondria, the cell’s energy centers, build ATP synthase. This supports normal energy production, especially in the heart, brain, and muscles.
Risk
What if the gene does not work
Pathogenic variants in the TMEM70 gene can cause a mitochondrial energy condition with low muscle tone, feeding problems, heart involvement, and developmental delay. Effects may range from severe illness in infancy to milder forms, depending on how much function remains.
Treatment
What does that mean for your treatment
At present, no TMEM70-specific treatment or drug selection approach is established for people with pathogenic variants in the TMEM70 gene; care is supportive and guided by the person’s symptoms rather than by a TMEM70-directed therapy.
Conditions associated with TMEM70
Gene function
What if the gene works
TMEM70 supports the steady flow of usable energy in your cells. It works inside mitochondria, the structures that turn food into ATP, the cell’s main energy source. Its main job is to help build and maintain ATP synthase, the protein machine that produces much of that energy.
The TMEM70 gene helps your cells assemble ATP synthase inside mitochondria. This large protein machine makes ATP, which supplies energy for everyday cell work.
TMEM70 helps keep key ATP synthase parts stable while the machine is being put together. This supports a more reliable process for how mitochondria make ATP.
TMEM70 works in the inner membrane of mitochondria, where ATP synthase is built and used. Its position helps the energy making machinery come together in the right place.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and help explain normal variation among people, such as appearance, metabolism, or the way the body responds to environmental influences. Many have no noticeable effect and are simply part of natural genetic diversity. Sometimes, though, a variant changes how a gene works more substantially and may contribute to or lead to a genetic condition.
Genetic variants
What if the gene does not work
Variants in the TMEM70 gene often reduce the amount or stability of the TMEM70 protein, so ATP synthase is assembled poorly in mitochondria, the cell's energy centers. Understanding how TMEM70 gene variants affect mitochondrial ATP synthase helps explain why some changes leave partial activity, while more severe variants can nearly eliminate complex V assembly. Cells then make less ATP, and more disruptive variants are often linked to earlier and more severe TMEM70 related disease.
How variants are linked to conditions
Certain variants in the TMEM70 gene cause TMEM70-related mitochondrial ATP synthase deficiency, a rare inherited condition that usually starts in newborns or infancy. It is linked to poor growth, low muscle tone, developmental delay, cardiomyopathy, and episodes of high lactic acid levels. TMEM70 gene variants and related conditions are mainly discussed in connection with this mitochondrial diagnosis, rather than as a common cause of adult disease.
A variant is not necessarily a diagnosis
Genetic variants are a routine feature of human biology and are widely found across the population. Most do not directly affect health and instead reflect normal human diversity. For many genes, having a variant linked to a condition points to a possible association rather than a definite diagnosis, especially when several genes and environmental influences also play a role. In some situations, by contrast, a single well-characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For TMEM70, risk is mainly linked to inheriting disease-causing changes in both copies of the gene, so it usually depends more on family genetics than on lifestyle or everyday exposures. There is not yet broadly confirmed evidence that specific habits or environmental factors clearly increase or reduce risk related to TMEM70.
Inheritance of TMEM70 variants
TMEM70-related conditions are inherited in an autosomal recessive pattern. This means a child inherits one TMEM70 variant from each parent, and the parents are usually healthy carriers with one working copy of the TMEM70 gene. When both parents carry a variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with two working copies. Because this is the usual TMEM70 inheritance pattern, it can affect boys and girls equally.
What does my TMEM70 result mean for my family?
For families with a TMEM70-related condition, parents are usually healthy carriers, and brothers or sisters may also be carriers or may be affected. Close relatives may want to learn whether the family change is present in them, especially when planning a pregnancy. The main family question is often whether both parents carry the same TMEM70 change, because that can affect the chance of having another affected child.
Genetic information
Genetic testing
How you find out about variants
TMEM70 genetic testing looks for variants in the TMEM70 gene using a blood sample, cheek swab, or saliva sample. Labs usually read the gene's DNA sequence, often as part of a mitochondrial disease panel, exome test, or genome test. Results may identify a disease causing variant, no relevant variant, or a finding that needs family testing for clarity.
When should I consider getting a genetic test?
TMEM70 testing may be worth considering if a baby or child has signs of a serious inherited energy problem, such as poor growth, weak muscle tone, heart problems, or repeated lactic acid buildup. It can also help when a family already has a known TMEM70 gene change or has had an affected child.
A genetic result is only one part of your health story
A genetic test result can be informative, but how much it explains varies with the condition and the kind of variant involved. Lifestyle, environment, age, and medical history are among the many factors that influence how the body functions over time. In some conditions, particularly those shaped by many genes, genetic information provides context rather than certainty and makes the most sense when considered with other parts of care. In other situations, a genetic finding can give a clear answer. For topics like response to medication, genetic results may also help put personal experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to medicines. Some people break down a drug more slowly or more quickly than others, which can change how well it works or how sensitive they are to side effects. This kind of difference is common and is one reason the same treatment can help one person a lot, help another only a little, or feel harder to tolerate.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect 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 both how strongly a drug works and how the body handles it. This understanding can support treatment decisions that are more informed and more personalized. To explore this topic further, you can learn more in the LearnHub.
Drugs influenced by the TMEM70 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how people respond to medicines. Questions about side effects, new prescriptions, or changes to treatment are best discussed with your doctor.
History
TMEM70 entered the medical literature in the late 2000s, when researchers linked variants in this gene to a rare inherited mitochondrial condition affecting energy production. Families and communities once noticed patterns that seemed to pass from parent to child. Early reports came from infants and children with heart, muscle, and growth problems, especially in parts of Central and Eastern Europe where a recurrent TMEM70 variant was identified in multiple families. This helped doctors recognize TMEM70 related disease as a distinct condition rather than an unexplained form of mitochondrial illness. From these first observations, research expanded steadily. Over time, descriptions became more precise, including a broader range of symptoms and outcomes in affected people.