NA00060
DNA from Fibroblast
Description:
CANAVAN DISEASE
ASPARTOACYLASE; ASPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Brain
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.36 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| N-ACETYLASPARTOACYLASE |
Dr Reuben Matalon (personal communication) has reported that this fibroblast culture shows N-acetylaspartoacylase activity which falls in the deficient range. |
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| aspartoacylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.15 |
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
608034.0003; CANAVAN DISEASE |
| Identified Mutation |
ALA305GLU; In patients with Canavan disease (271900), Kaul et al. (1994) identified a 914C-A change in exon 6 of the ASPA gene, resulting in an ala305-to-glu (A305E) substitution. The mutation was found exclusively in non-Jewish patients and constituted 60% of the 40 chromosomes analyzed. Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity.
Shaag et al. (A J Hum Genet 57:572-580,1995) found the ala305-to-glu (A305E) mutation due to a GCA-to-GAA transversion in 15 out of 38 mutant alleles in 19 non-Jewish patients. This distribution was pan-European, suggesting that it is the most ancient mutation.
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
G176D; CANAVAN DISEASE |
| Identified Mutation |
GLY176ASP |
| Remarks |
Clinically affected; brain tissue fibroblast culture; fibroblasts show deficient N-acetylaspartoacylase activity; for the ASPA gene, the donor subject is heterozygous for a c.914 C>A (exon 6, A305E) and heterozygous for a novel c.527 C>A mutation (exon 4, G176D); similarly affected sibling (GM00059). |
| Feng L, Chao J, Tian E, Li L, Ye P, Zhang M, Chen X, Cui Q, Sun G, Zhou T, Felix G, Qin Y, Li W, Meza ED, Klein J, Ghoda L, Hu W, Luo Y, Dang W, Hsu D, Gold J, Goldman SA, Matalon R, Shi Y, Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs Advanced science (Weinheim, Baden-Wurttemberg, Germany)7:2002155 2020 |
| PubMed ID: 33304759 |
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