AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities
| Autor: | Jennifer Bennett, Aneal Khan, Marina Kerr, Xing-Chang Wei, Morris H. Scantlebury |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
N-Acetylaspartic acid Microcephaly N-acetylaspartic acid Case Report 030105 genetics & heredity medicine.disease_cause 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine medicine Gene Exome sequencing mitochondrial abnormalities seizures chemistry.chemical_classification Mutation Chemistry General Medicine Ribosomal RNA medicine.disease Molecular biology Amino acid Transfer RNA AIMP1 030217 neurology & neurosurgery |
| Zdroj: | Child Neurology Open |
| ISSN: | 2329-048X |
| Popis: | Aminoacyl transfer RNA (tRNA) synthetase complex-interacting multifunctional protein I is a noncatalytic component of tRNA multi-synthetase complexes. Although important in joining tRNAs to their cognate amino acids, AIMP1 has several other functions including axonal growth, cytokine activity, and interactions with N-acetylaspartic acid in ribosomal tRNA synthetase complexes. Further, N-acetylaspartic acid donates an aspartate during myelination and is therefore important to axonal integrity. Mutations in AIMP1 can disrupt these functions, as demonstrated in this clinical case study of 2 monozygotic twins, who display congenital opisthotonus, microcephaly, severe developmental delay, and seizures. Whole exome sequencing was used to identify a premature stop codon in the AIMP1 gene (g. 107248613_c.115C>T; p.(Gln39). In the absence of whole exome sequencing, we propose that decreased N-acetylaspartic acid peaks on magnetic resonance spectroscopy could act as a biomarker for AIMP1 mutations. |
| Databáze: | OpenAIRE |
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