C9orf72

C9orf72 is a gene that provides instructions for producing a protein involved in cell functions, especially in the brain. A specific abnormality in this gene, called a repeat expansion, involves a segment of DNA being abnormally repeated many times. This mutation is linked to neurodegenerative diseases like ALS (lou Gehrig’s disease) and certain forms of dementia. The expanded repeats can interfere with normal cell processes, leading to nerve cell damage and progressive loss of function. Understanding C9orf72 helps researchers develop targeted treatments for these serious neurological conditions.