What is a gene?
A gene is a small segment of our DNA that contains the instructions to make a protein. These proteins play essential roles in the functioning of our body, such as building muscles, transmitting signals, or fighting diseases. Each gene is like a “recipe” in a large cookbook called the genome.
What is DNA?
DNA, or deoxyribonucleic acid, is a long molecule that looks like a spiral staircase. Each step of the staircase is made up of chemical “letters” (A, T, C, G) that form words. These words code for proteins. DNA is stored in cells and contains the entire blueprint for building and operating the human body.
Gene expression
Gene expression is like reading a recipe. A cell “reads” a gene to make a protein. This starts with copying the gene into a simpler version called messenger RNA (mRNA), which is then used as a template to assemble the corresponding protein. This process is carefully regulated, much like turning a switch on or off.
What is a genetic mutation?
A mutation is a change in a gene’s “recipe.” Imagine replacing a letter or word in a cake recipe—it could change the final result. Sometimes, these changes have no effect, but other times, they can prevent a protein from working properly or functioning at all, which can lead to diseases.
Heredity and transmission
Our genes come half from our mother and half from our father. Some mutations can be passed directly from parents to their child (heredity), while others appear spontaneously during conception, as with “de novo” mutations. Understanding genetic transmission is key to grasping why certain conditions occur.
Genetic testing
Genetic tests analyze DNA to detect specific mutations. These tests can help confirm a diagnosis, understand risks for other family members, or guide treatment options. However, the results can be complex to interpret, and medical guidance is always necessary.
How does a “de novo” mutation occur?
A “de novo” mutation means that a genetic change has appeared spontaneously in a child and was not inherited directly from the parents. Here’s how this happens:
The origin: an error in copying DNA
When a child is conceived, they receive half of their DNA from their mother and the other half from their father. To transfer this genetic material, the DNA in the parents’ sperm and eggs needs to be copied. It’s during this copying process that errors can occur. A single “letter” of the DNA code (A, T, C, or G) might be accidentally replaced, added, or deleted. This error is what we call a mutation.
Why do these errors happen?
These mutations are natural and can occur simply because the process of copying DNA is not perfect. Most of the time, these errors don’t cause any problems, but occasionally, they affect an important gene like LMBRD2. The mutation is therefore random and not caused by anything the parents did or didn’t do. There is no fault involved when a de novo mutation occurs.
When does the mutation happen?
The mutation can occur either in the sperm or egg before conception or right after conception, when the embryo’s DNA starts dividing and growing. A small mistake early in development can then be passed on to all the cells in the child’s body.
How does the LMBRD2 mutation cause problems?
The LMBRD2 gene normally provides instructions for making a protein that plays a crucial role in certain cellular functions (such as transporting molecules or communication between cells). When this gene is altered: The protein it is supposed to produce may not be made correctly. This can disrupt important processes in the body, potentially affecting development or metabolism.
Since LMBRD2 has specific functions, the issues caused by the mutation can vary from one child to another depending on the severity of the mutation.
Key points to remember:
The mutation was not inherited from the parents; it appeared for the first time in the child. De novo mutations are rare and unpredictable. They are not caused by human actions. While this mutation may present challenges for the child, advances in genetic science are helping researchers better understand and manage these conditions.
