Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments
| Autor: | Anil Panwala, Sudheendra N.R. Rao, Fidelia B. Alvina, Danielle C. Fumagalli, Leena Panwala, Patricia L. Babin, Anita Chacko |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 rare disease Disease infantile neuroaxonal dystrophy Bioinformatics vector gene therapy Infantile neuroaxonal dystrophy 03 medical and health sciences Gene panel Hypothesis and Theory medicine Genetics CRISPR/Cas9 Genetics (clinical) Exome sequencing business.industry Molecular pathology Enzyme replacement therapy Molecular diagnostics medicine.disease lcsh:Genetics 030104 developmental biology Molecular Medicine business exome sequencing Rare disease enzyme replacement therapy |
| Zdroj: | Frontiers in Genetics Frontiers in Genetics, Vol 9 (2018) |
| ISSN: | 1664-8021 |
| Popis: | Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by regression of acquired motor skills, delayed motor coordination and eventual loss of voluntary muscle control. Biallelic mutations in the PLA2G6 gene have been identified as the most frequent cause of INAD. We highlight the salient features of INAD molecular pathology and the progress made in molecular diagnostics. We reiterate that enhanced molecular diagnostic methodologies such as targeted gene panel testing, exome sequencing, and whole genome sequencing can help ascertain a molecular diagnosis. We describe how the defective catalytic activity of the PLA2G6 gene could be potentially overcome by enzyme replacement or gene correction, giving examples and challenges specific to INAD. This is expected to encourage steps toward developing and testing emerging therapies that might alleviate INAD progression and help realize objectives of patient formed organizations such as the INADcure Foundation. |
| Databáze: | OpenAIRE |
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