RNMTL1
rnmtl1 Gene: Unveiling Its Significance in Human Health
Description
The rnmtl1 gene encodes an enzyme called ribonucleotide reductase M2 subunit B, which plays a crucial role in DNA synthesis and repair. This enzyme helps convert ribonucleotides (the building blocks of RNA) into deoxyribonucleotides (the building blocks of DNA). Without rnmtl1, cells cannot produce enough DNA, leading to impaired cell growth and proliferation.
Associated Diseases
Mutations in the rnmtl1 gene have been linked to several rare genetic disorders, including:
- Mitochondrial DNA Depletion Syndrome (MDSD): Characterized by progressive loss of mitochondrial DNA, leading to muscle weakness, seizures, and developmental delays.
- Childhood-Onset Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A severe neurological disorder featuring muscle weakness, seizures, vision loss, and stroke-like episodes.
- Leigh Syndrome: A fatal neurological condition in infants characterized by progressive degeneration of brain cells, leading to developmental delays, seizures, and respiratory problems.
Did you Know ?
Mutations in the rnmtl1 gene are extremely rare, occurring in approximately 1 in every 250,000 people worldwide. However, when these mutations do occur, they can have devastating consequences.
