UBA5 GENE MUTATION
A LIFE THREATENING PROGRESSIVE NEUROLOGICAL DISORDER
The Ubiquitin-like modifier-activity enzyme 5 (UBA5) gene contains instructions for the UBA5 protein which is critical to cellular breakdown and function.
Mutations in the UBA5 gene can result in protein malfunction and even disease.
Diseases associated UBA5 include Spinocerebellar Ataxia and Early-Onset Epileptic Encephalopathy.
HERE ARE SOME OF THE WAYS UBA5 DISEASE PRESENTS IN RAIDEN
Hypotonia (Floppiness)
Spasticity (Stiffness)
Movement Disorder
COMMON FINDINGS
UBA5
There have only been less than 30 genetically diagnosed and reported UBA5 disease cases in the world. Source: Cold Spring Harbor Molecular Case Studies. 2021.
Motor Control Issues
Hypotonia (Floppiness), 84%
Spasticity (Stiffness), 68%
Movement Disorder, 79%
Cognitive Issues
Seizures, 84%
Intellectual Disability, 95%
Brain Abnormalities, 100%
Growth Issues
Microcephaly (Poor Head Growth), 89%
Failure to Thrive, 74%
THE PROBLEM
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Children are diagnosed too late
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Barely any translational research
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There is no cure for UBA5
But we are changing that.
UBA5 RESEARCH
Key Scholarly Articles
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy
A review of genetically confirmed UBA5 cases
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
UBA5 mutations cause a form of movement disorder
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
UBA5 mutations cause early onset brain disease and epilepsy
The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice
Research model shows that complete loss of UBA5 function is lethal
