The Genetics Of Copper Metabolism

Copper- An Essential Mineral

Copper, a trace mineral, is an essential nutrient required for various bodily functions.

It is absorbed in the stomach and the first part of the small intestine, the duodenum, where it binds to a protein called metallothionein.

It is then transported to the liver bound to albumin and transcuprein, where it’s incorporated into ceruloplasmin, the primary copper-carrying protein in the blood.

Copper is primarily excreted through the bile and to a lesser extent, in the urine.

Why Does Our Body Needs Copper?

Copper plays numerous roles in our bodies.

It is necessary for iron metabolism, aiding in the formation of red blood cells and the absorption of iron in the gut.

Copper is also crucial for maintaining the health of our nerves and is involved in energy production.

It acts as a cofactor for several enzymes, known as cuproenzymes, which are involved in functions such as energy production, iron metabolism, connective tissue synthesis, and neurotransmission.

RDA Of Copper

The Recommended Dietary Allowance (RDA) for copper for adults is 900 micrograms per day.

It is recommended that men and women aim for this same amount, while pregnant and lactating women have slightly increased needs of 1,000 and 1,300 micrograms per day, respectively.

Copper Metabolism: Genetic Factors

Copper metabolism in the human body is a complex process that is controlled by a number of different genes. Here are several key genes involved:

ATP7A and ATP7B Genes

These genes are pivotal for copper metabolism in the body. Both encode copper-transporting P-type ATPases — proteins involved in the movement of copper within cells.

They ensure that copper reaches the locations where it’s needed for the formation of copper-dependent enzymes, and they help maintain copper homeostasis by removing excess copper from the cell.

Mutations in the ATP7A gene can lead to Menkes disease, a disorder that impairs the body’s ability to distribute copper effectively, leading to copper deficiency in the body’s cells and tissues.

The ATP7B gene is primarily expressed in the liver.

When this gene is mutated, it results in Wilson’s disease, a condition characterized by the build-up of copper in tissues, primarily in the liver and brain, causing copper toxicity.

Check your AncestryDNA, 23andMe raw data for the ATP7A & ATP7B variants

CTR1 (SLC31A1) Gene

The SLC31A1 gene, also known as CTR1, encodes a high-affinity copper uptake protein.

It is the primary transporter that facilitates the entry of copper into cells.

If this gene were to be mutated or function poorly, it would affect the ability of cells to take in the copper they need for various biochemical processes.

Check your AncestryDNA, 23andMe raw data for the CTR1 gene variants

COMMD1 and ATP2B Genes

COMMD1 and ATP2B genes are implicated in the process of copper excretion.

Mutations in these genes could potentially lead to an accumulation of copper in the body, contributing to copper toxicity.

Check your AncestryDNA, 23andMe raw data for the COMMD1 & ATP2B variants

Section Summary

The study of these and other genes involved in copper metabolism is a growing field. Understanding the genetics of copper metabolism can provide insights into various health conditions related to copper imbalances and can potentially lead to the development of more effective treatments for these conditions.

Several genetic disorders can disrupt copper metabolism in the human body, leading to health problems due to copper deficiency or toxicity. Here are two of the most well-known:

Wilson’s Disease

Wilson’s disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene.

This gene encodes a protein responsible for transporting copper into bile and incorporating copper into ceruloplasmin, a protein that carries copper in the blood.

Gene Mutations

When the ATP7B gene is mutated, copper isn’t properly transported and starts to accumulate in various tissues, particularly in the liver and brain.

Check your AncestryDNA, 23andMe raw data for the ATP7B gene variants

Over time, this can cause severe symptoms including liver disease, neurological abnormalities (such as movement difficulties, cognitive decline, and psychiatric problems), and Kayser-Fleischer rings in the eyes.

Treatment and management

Treatment for Wilson’s disease involves reducing the amount of copper in the body, managing symptoms, and preventing the copper from accumulating again.

This is often achieved through chelation therapy (using drugs that bind to copper and help remove it from the body) or zinc therapy (zinc interferes with the absorption of copper from food).

Menkes Disease

Menkes disease, also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in the ATP7A gene.

Gene Mutations

The ATP7A gene produces a protein that helps regulate the distribution of copper in the body.

Check your AncestryDNA, 23andMe raw data for the ATP7A gene variants

In Menkes disease, the inability to distribute copper correctly leads to a deficiency of copper in some areas of the body while accumulating it in others, especially in the small intestine and kidneys.

The lack of available copper leads to issues with the structure and function of various enzymes, disrupting several biochemical processes.

Symptoms

Symptoms of Menkes disease usually begin in infancy and can include distinctive kinky hair, failure to thrive, developmental delay, diminished muscle tone, seizures, and temperature instability.

Due to the severe neurological implications and other complications, Menkes disease is typically life-threatening in early childhood.

Treatment and management

There’s currently no cure for Menkes disease, and treatment mainly focuses on symptom management and improving the quality of life.

In some cases, early treatment with copper injections may help improve the course of the disease.

Section Summary

In both of these disorders, regular monitoring and treatment adjustments are necessary.

As our understanding of these diseases continues to grow, the hope is that more effective treatments and interventions will be developed.

Always consult a healthcare provider or a genetic counselor for advice if you’re concerned about these or any other genetic disorders.

Copper Metabolism: Non-Genetic Factors

Various non-genetic factors can also influence copper requirements.

These factors include age, sex, pregnancy status, overall health, and diet.

For example, a diet high in zinc or vitamin C can inhibit copper absorption, while a diet low in these nutrients can enhance copper absorption.

Symptoms Of Copper Deficiency

Copper deficiency can lead to various symptoms, including fatigue, paleness, skin sores, edema, slowed growth in children, and neurological symptoms such as numbness and weakness in the extremities.

Symptoms Of Excess Copper

Excessive copper can also be harmful, leading to a condition known as copper toxicity.

Symptoms of copper toxicity can include nausea, vomiting, abdominal pain, diarrhea, and in severe cases, liver damage, and neurological problems.

How to Incorporate Copper-rich Foods in Your Diet?

Incorporating copper-rich foods into your diet can help ensure that you’re getting adequate amounts of this important nutrient. Here are some strategies:

Include Shellfish in Your Meals

Shellfish are high in copper, particularly oysters and lobsters.

Adding these to your diet occasionally can provide a substantial amount of copper.

You might consider a seafood paella, a lobster bisque, or a raw oyster appetizer.

Eat More Whole Grains [Vegan]

Whole grains like wheat and barley are a great source of copper.

Consider swapping white bread or pasta for whole-grain alternatives.

Also, try adding barley to soups or stews, or using it as a base for salads.

Incorporate Nuts and Seeds [Vegan]

Nuts and seeds, such as cashews, sunflower seeds, and sesame seeds, are excellent sources of copper.

They make a great snack on their own, or they can be added to salads, smoothie bowls, or yogurt.

Almond butter or tahini (sesame paste) can also be a part of meals or snacks.

Don’t Forget Legumes [Vegan]

Legumes such as lentils, chickpeas, and soybeans are high in copper.

You can use them in soups, stews, salads, or side dishes.

Chickpeas can also be used to make hummus, which is a tasty and versatile dip.

Eat Dark Chocolate [Vegan]

Dark chocolate is surprisingly high in copper.

Look for chocolate that’s at least 70% cocoa – it not only contains more copper but also is richer in antioxidants than milk chocolate.

Remember to consume it in moderation due to its high calorie and sugar content.

Include Copper-Rich Fruits and Vegetables [Vegan]

Certain fruits and vegetables like avocados, bananas, potatoes, and mushrooms have decent amounts of copper.

Include these in your meals or snacks.

Use Copper-Rich Herbs and Spices

Some herbs and spices, like coriander, cumin, and marjoram, are quite rich in copper.

Don’t be shy to spice up your meals.

Stay Hydrated with Copper-Rich Beverages

Soy milk, green tea, and certain fruit juices, like pomegranate juice, can provide you with a bit of copper.

Enjoy these as part of a balanced diet.

Consider Organ Meats

If you eat meat, organ meats like liver are incredibly rich in copper.

However, due to their high vitamin A content, they should be consumed in moderation.

Section Summary

It’s always important to strive for a balanced diet rather than focusing too much on one single nutrient.

If you’re considering making significant changes to your diet or you’re worried about your copper intake, it’s a good idea to speak to a dietitian or healthcare provider.

They can provide you with personalized advice based on your individual nutritional needs.

Takeaways

Copper is an essential trace mineral that plays a crucial role in many bodily functions, including iron metabolism, energy production, and nerve health.

Both genetic and non-genetic factors can influence copper requirements, and a balance is necessary to avoid deficiencies or toxicity.

Ensuring an adequate dietary intake of copper is thus crucial for maintaining overall health.

References

National Institutes of Health, Office of Dietary Supplements. (2021). Copper Fact Sheet for Health Professionals.
Turnlund JR. (1998). Human whole-body copper metabolism. The American journal of clinical nutrition, 67(5 Suppl), 960S–964S.
Kim BE, Nevitt T, Thiele DJ. (2008). Mechanisms for copper acquisition, distribution and regulation. Nature chemical biology, 4(3), 176–185. https://doi.org/10.1038/nchembio.72