Ataxia is a neurodegenerative disease defined as an impaired voluntary coordination of muscle movement. Ataxia is mainly attributed to damages in the lesions of cerebellum, a part of the brain that is responsible for coordinating movement. Symptoms from the ataxia are serious and oftentimes cause weakness. Some types of ataxia related with genetic mutations can lead to an early death. Even though treatment for ataxia involves a combination of medication to reduce symptoms and to improve quality of life, these therapies have not shown substantial clinical improvement associated with neuronal loss.

CV-14 project is dealing with a special ataxia which is characterized by a monogenic autosomal recessive disease-causing a progressive neurogenerative disorder and cardiomyopathy, leading to an early death. CV-14 protein is known to play a key role in iron metabolism, particularly in iron-sulfur cluster (ISC) biogenesis and heme biosynthesis in mitochondria. A deficiency of CV-14 protein leads to an iron-sulfur cluster biosynthesis dysfunction, mitochondrial iron overload and oxidative stress in neurons and cardiac muscles. Protein replacement therapy that delivers proteins into cells across impermeable cell membrane has been proposed as an attractive strategy to deal with genetic diseases. For this reason, Therapeuticmolecule Systemic Delivery Technology (TSDT) applied cell-permeable CV-14 protein has been developed to be systemically delivered into damaged neurons and cardiomyocytes to protect from ataxia.

CV-14 project will be an effective therapeutic approach to strengthen neuronal function, which will greatly help patients who are suffering from ataxia.