Genetics & Your Health
Genetics plays a powerful role in shaping your health. For certain conditions, genetic testing and counseling can help you better understand the role that genetics plays and empower you with the information you need to manage your health.
Genetics & Metabolic Disorders
Our metabolism is a complex process in which our bodies produce energy from the food and drink that we take in. This process occurs through a series of steps. Metabolism also involves the removal of waste that is produced during this process. Metabolic disorders refer to a group of genetic conditions in which there is an error somewhere in this process. Specifically, an individual is not able to produce or break down certain enzymes, proteins, and/or other substances needed by the body. For this reason, metabolic disorders are also called biochemical disorders or inborn errors of metabolism.
There are hundreds of different kinds of metabolic disorders. The disorders are categorized by the specific process or pathway that they affect. The primary categories include:
- Congenital disorders of creatine metabolism
- Congenital disorders of glycosylation
- Lipid metabolism disorders (e.g. familial hypercholesterolemia)
- Metal metabolism disorders (e.g. Wilson disease)
- Purine and pyrimidine metabolism disorders
- Porphyrin metabolism disorder
- Vitamin and cofactor metabolism disorder
Metabolic disorders may affect a single part of the body, or multiple body systems, depending on what specific pathway is involved. Individuals may have limited to no symptoms or may present with life-threatening episodes. In addition, symptoms may vary between infancy to childhood to adulthood, can be progressive, and at times life-limiting. A metabolic disorder may be suspected in people with developmental disabilities, seizures, poor growth, and periods of regression.
Diagnosis of a metabolic disorder is made through the careful evaluation of an individual’s medical and family history, physical examination, and measurement of specific levels of certain substances in the blood and urine. In some cases, imaging studies, measurement of levels of certain substances in other body tissues (e.g. skin or muscle), and/or genetic testing may be recommended.
For many metabolic disorders, there is specific management and treatment available. In general, treatment is focused on reducing and eliminating the buildup of these toxic substances in the body. This may be done through a specialized diet, taking supplements, or avoidance of triggers, and some metabolic conditions can now even be treated by replacing the missing enzymes.
Genetics & Your Brain
Controlling more than just your thoughts, your brain is involved in functions that seem simple, such as eating and breathing, as well as functions that are complex like your interactions with the wider world, processing emotions, and learning new information. While many people think about genes contributing to our physical features, such as eye color or height, some genes influence how our brain develops and continues to function during our lifetime. These genes can influence how your brain is shaped, how you develop, how you process and interact with the world around you, and how your brain communicates with your body. These genes help control the internal mechanics that build all of the tissues in our brain and then how the brain communicates through neurons and the internal network.
Genetic conditions that affect the brain may do so in a variety of ways. These conditions may impact the overall development, structure, or size of the brain to whether the brain is able to produce or utilize important proteins to function and communicate to the many interactions with the other factors to form complex conditions like dementia and Autism spectrum disorder to much more that we are still uncovering.
As researchers continue to delve into the mysteries of genetics and your brain, here are different categories and examples of some genetic brain conditions:
Genetics & Connective Tissue Disorders
Our bodies are made up of many different muscles, organs, and bones. Connective tissue is a type of tissue in the body that helps to hold everything together, like a glue for your body. We have over 20,000 different genes in the body. These genes are like instruction manuals for how to build a protein, and each protein has an important function that helps to keep our body working how it should. There are many of these proteins that either help to make connective tissue, or help the connective tissue function properly. If someone has a non-working copy of one of these genes, it can cause a connective tissue disorder.
There are thought to be over 200 different disorders that can affect our connective tissue, and they are all quite variable. Some can cause very little health impact, while others can cause serious (sometimes even life-limiting) medical concerns.
As genetic research continues to learn more about our genes and how they affect our bodies, there are likely to be more specific types of connective tissue disorders that are discovered. Some of the more common connective tissue disorders we know about thus far include:
Do you have questions about pediatric or adult genetic conditions? Talk with one of our genetic counselors.
NINDS conducts, fosters, and supports research and research training on the causes, prevention, diagnosis, and treatment of neurological and muscle disorders.
Genetic brain disorders affect the development and function of the brain. Some are inherited, some are caused by exposure, and others are both. Learn types and treatments.
Brain malformations is damage or abnormal development of the brain and nervous system. Starts long before a baby is born. Learn types and treatments.