Genetic changes, called mutations, can have a big effect on brain cell injuries in different inherited disorders. Sometimes, these mutations cause brain cells to break down, which is known as neurodegeneration.
There are three main types of mutations:
Point Mutations: These are tiny changes in a single building block of DNA. They can mess up how proteins work. For example, in Huntington's disease, a repeated section in a specific gene (the HTT gene) creates a harmful protein that causes brain cell death.
Copy Number Variations (CNVs): These happen when the number of copies of a gene changes. This can hurt brain cell health. Around 15% of people with autism spectrum disorders have CNVs that affect how brain cell connections work.
Chromosomal Aberrations: These are bigger changes in chromosome structure. They can lead to serious conditions, like Williams syndrome, which is known for causing learning difficulties and other brain-related issues.
Statistics show that about 50% of neurodegenerative diseases are linked to genetics. For instance, mutations in certain genes like APP, PSEN1, and PSEN2 cause familial Alzheimer's disease, affecting 5-10% of cases. In Amyotrophic Lateral Sclerosis (ALS), changes in the SOD1 gene cause the death of specific motor neurons. Some variations of this gene are responsible for about 20% of familial ALS cases.
It’s really important to understand how these genetic mutations hurt brain cells. This knowledge can help create specific treatments and improve the health of patients with inherited disorders.
Genetic changes, called mutations, can have a big effect on brain cell injuries in different inherited disorders. Sometimes, these mutations cause brain cells to break down, which is known as neurodegeneration.
There are three main types of mutations:
Point Mutations: These are tiny changes in a single building block of DNA. They can mess up how proteins work. For example, in Huntington's disease, a repeated section in a specific gene (the HTT gene) creates a harmful protein that causes brain cell death.
Copy Number Variations (CNVs): These happen when the number of copies of a gene changes. This can hurt brain cell health. Around 15% of people with autism spectrum disorders have CNVs that affect how brain cell connections work.
Chromosomal Aberrations: These are bigger changes in chromosome structure. They can lead to serious conditions, like Williams syndrome, which is known for causing learning difficulties and other brain-related issues.
Statistics show that about 50% of neurodegenerative diseases are linked to genetics. For instance, mutations in certain genes like APP, PSEN1, and PSEN2 cause familial Alzheimer's disease, affecting 5-10% of cases. In Amyotrophic Lateral Sclerosis (ALS), changes in the SOD1 gene cause the death of specific motor neurons. Some variations of this gene are responsible for about 20% of familial ALS cases.
It’s really important to understand how these genetic mutations hurt brain cells. This knowledge can help create specific treatments and improve the health of patients with inherited disorders.