This #FactFriday, we will be discussing ADSSL1-gene related myopathy. Cure Rare Disease’s goal is to develop life-saving, advanced modalities to treat all rare diseases.

What is ADSSL1? ADSSL1 is a gene that encodes for an enzyme that helps make adenosine monophosphate (AMP), a precursor to adenosine triphosphate (ATP). ATP is a molecule that carries energy and is found in the cells of all organisms. The energy in ATP is used for many processes in the body. ADSSL1 is found in the skeletal muscle. 

What does an absence of ADSSL1 do? An absence of the protein that this gene codes for leads to cells not having enough energy to function properly, causing weakness of the skeletal muscles.

How is ADSSL1-gene related myopathy acquired? This disease is genetic, meaning it is inherited. The abnormal gene, ADSSL-1, is passed down by family members who carry the mutation. It is autosomal recessive, which means an individual must inherit two copies of the mutated gene (one from each parent) to inherit the disorder. 

What are some of the symptoms of ADSSL1-gene related myopathy? Symptoms tend to begin in adolescence and progress slowly. These include fatigue, difficulty running and climbing stairs, and muscle weakness in the lower limbs. This condition appears to be most common in Korea, but has been seen in other countries as well. Currently, the disease is under-diagnosed.

What is CRD doing to help ADSSL1-gene related myopathy? CRD is developing therapies to treat ADSSL1 that utilize gene replacement.

Sources: 

https://www.institut-myologie.org/en/2020/09/14/adssl1-gene-related-myopathy-is-not-solely-distal-and-rods-are-more-common-in-this-disease-than-vacuoles/#:~:text=ADDSL1%20is%20an%20enzyme%20specific,two%20unrelated%20South%20Korean%20families