This website provides information on patients with mutations in the LRPPRC gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the LRPPRC gene is a multisystem disorder characterized by developmental delays, intellectual impairment, hypotonia, ataxia, seizures, and episodes of severe lactic acidosis and coma.

LRPPRC, or Leucine-rich pentatricopeptide repeat containing, is a multi-functional protein that plays a crucial role in mitochondrial mRNA stability, translation, and cellular energy metabolism. Mutations in the LRPPRC gene are linked to severe neurological disorders such as Leigh syndrome French-Canadian type (LSFC), and the protein's dysregulation is also implicated in the progression of various cancers. Research also indicates potential involvement in other conditions, including Parkinson's disease and viral infections.

Not all individuals with a mutation in the LRPPRC gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LRPPRC gene.

Prof. Muhammad Imran Naseer, PhD, Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia, mimrannaseer@yahoo.com; minaseer@kau.edu.sa