Canavan disease (CD, OMIM# 271900) is an autosomal recessive neurodegenerative disorder caused by homozygous or compound heterozygous mutations in ASPA gene, which result in catalytic deficiency of the aspartoacylase enzyme and the accumulation of N-acetylaspartic acid (NAA). Clinical presentation varies according to the age of disease onset. Here, we generated a human induced pluripotent stem cell line (hiPSCs) SDQLCHi064-A from a 5-month old boy with CD carrying two novel frame shift mutations c.556_559dupGTTC (p.L187Rfs*5) and c.919delA (p.S307Vfs*24) of the ASPA gene, in order for us to better understanding the disease.
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| http://dx.doi.org/10.1016/j.scr.2024.103325 | DOI Listing |
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Article Synopsis
- Canavan disease (CD) is a rare genetic disorder caused by mutations in the ASPA gene, leading to high levels of N-acetylaspartate (NAA) in the body and severe developmental issues in infants.
- A subset of patients displays milder symptoms, possibly due to some remaining ASPA activity, raising the question of how urine NAA levels relate to this.
- A study found that individuals with the mild phenotype had significantly lower urine NAA levels and specific ASPA mutations that were absent in those with the typical phenotype, indicating that urine NAA can be used to differentiate between the two types of CD.
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