Researchers at IWK Health have discovered a drug that may help in the fight against rare diseases known as Peroxisomes Biogenesis Disorders (PBD). The study published in Frontiers in Cell and Developmental Biology identified a small molecule that can be used as treatment to slow down the disease or improve the viability of children affected by PBD.
Peroxisomal disorders are rare, genetic, terminal conditions that affect all major organ systems of the body. They occur when peroxisomes, organelles within the cell, are missing or do not function correctly in the body. Peroxisomes are necessary for cell function, normal brain development, and the formation of myelin.
“Peroxisome biogenesis disorders are devastating developmental and metabolic disorders that mainly affect children and in severe cases lead to death in the first days of life,” says immunologist Francesca Di Cara, assistant professor in the department of Microbiology and Immunology, and pediatric immunology researcher at IWK Health. “To date there is no cure, but our preliminary data shows we may be able to extend patient’s lifespan and improve their condition.”
The drug Di Cara and her colleagues at the University of Alberta and the University of Moncton discovered boosts the cellular metabolic functions of peroxisomes, those essential metabolic organelles necessary for survival.
“It is the first drug identified to treat PBD that does not act on broken peroxisome to fix it but improves the overall functionality of the healthy one in the cells,” says Di Cara. “In patients affected by PBD with a mild disease our drug can restore the core functions of the organelle.”
The study has also opened up new avenues of investigation for the study of PBD and peroxisome biology.
“The peroxisome is still a mystery in cell biology since we do not understand how many things it controls,” says Di Cara. “While it is known that peroxisomes are essential for survival, we have discovered that peroxisomes are also important to the immune system. If these drugs can improve the function of peroxisomes, they also may be able to boost immune cell activity, even in people that do not have the mutation.”
The symptoms of peroxisomal disorders vary greatly depending on the individual patient. Some symptoms include hearing and vision loss, hypotonia, neurological issues, seizures, developmental delay, feeding issues, adrenal insufficiency, leukodystrophy, and liver, kidney, and bone disease. Most patients with a severe phenotype, do not live past a year old, but some patients with a milder phenotype may live into their 30’s and 40s.