Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. The cause lies in a mutation that changes a ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

The difference between hereditary (germline) and acquired (somatic) gene mutations in cancer can lead to much confusion. This is especially true if you’re hearing about genetic testing for a genetic ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are linked to genes ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial ...