MRPS36
Mitochondrial Ribosomal Protein S36 (MRPS36): A Key Player in Mitochondrial Function and Disease
Description
Mitochondrial ribosomal protein S36 (MRPS36) is a small protein that plays a crucial role in the assembly and function of the mitochondrial ribosome. The mitochondrial ribosome is responsible for protein synthesis within mitochondria, the organelles that generate energy for the cell. MRPS36 is encoded by the MRPS36 gene located on chromosome 19 in humans.
Associated Diseases
Mutations in the MRPS36 gene have been linked to several mitochondrial diseases, including:
- Leigh syndrome: A severe neurological disorder characterized by developmental delay, seizures, and muscle weakness.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A condition that affects the brain, heart, and skeletal muscles, causing seizures, strokes, and cognitive impairment.
- Mitochondrial diabetes: A type of diabetes caused by mitochondrial dysfunction that leads to impaired insulin secretion and glucose intolerance.
- Myopathy: A progressive muscle weakness that can affect various muscle groups.
Did you Know ?
Approximately 1 in every 10,000 people is affected by a mitochondrial disease caused by MRPS36 mutations. However, these diseases are often underdiagnosed, suggesting that the true prevalence may be higher.
