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Next Generation Sequencing and ALS: known genes, different phenotyphes
- Source :
- Archives Italiennes de Biologie. :159-166
- Publication Year :
- 2018
- Publisher :
- Pisa University Press, 2018.
-
Abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease clinically characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease, and over the last decade, identification of mutations in about 20 genes predisposing to these disorders has provided the means to better understand their pathogenesis. Next Generation sequencing (NGS) is an advanced high-throughput DNA sequencing technology which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic neurological and neurodegenerative diseases. These strategies allowed to rapidly identify disease-associated variants and genetic risk factors for both familial (fALS) and sporadic ALS (sALS), strongly contributing to the knowledge of the genetic architecture of ALS. Moreover, as the number of ALS genes grows, many of the proteins they encode are in intracellular processes shared with other known diseases, suggesting an overlapping of clinical and phatological features between different diseases. To emphasize this concept, the review focuses on genes coding for Valosin-containing protein ( VCP ) and two Heterogeneous nuclear RNA-binding proteins ( hnRNPA1 and hnRNPA2B1 ), recently idefied through NGS, where different mutations have been associated in both ALS and other neurological and neurodegenerative diseases.
- Subjects :
- 0301 basic medicine
Genotype
Physiology
Next Generation Sequencing
Disease
Biology
Amyotrophic Lateral Sclerosis
High-Throughput Nucleotide Sequencing
Humans
Phenotype
DNA sequencing
Familial (fALS) and sporadic ALS (sALS)
Heterogeneous nuclear RNA-binding proteins
Valosin-containing protein
03 medical and health sciences
0302 clinical medicine
medicine
Family history
Amyotrophic lateral sclerosis
Gene
Genetics
Next Generation Sequencing • Familial (fALS) and sporadic ALS (sALS) • Valosin-containing protein • Heterogeneous nuclear RNA-binding proteins
Cell Biology
General Medicine
medicine.disease
Genetic architecture
030104 developmental biology
Settore MED/03 - Genetica Medica
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 00039829
- Database :
- OpenAIRE
- Journal :
- Archives Italiennes de Biologie
- Accession number :
- edsair.doi.dedup.....86434b4441ecdba09b83eaa6f13c02b7