| ALSINC — ALS IncRNA | |
|---|---|
| Symbol | ALSINC |
| Full Name | ALS IncRNA |
| Chromosome | 9q34.11 |
| NCBI Gene | 100505438 |
| Ensembl | ENSG00000223731 |
| Gene Type | Long non-coding RNA (lncRNA) |
| Diseases | [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis) |
| Expression | [Cortex](/brain-regions/cortex), Spinal cord, Motor [neurons](/entities/neurons) |
ALSINC (ALS IncRNA) is a long non-coding RNA (lncRNA) gene located on chromosome 9q34.11 that plays a critical role in RNA processing and splicing regulation. ALSINC is one of the few lncRNAs directly implicated in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. The gene is catalogued as NCBI Gene ID 100505438 and Ensembl ID ENSG00000223731.
Unlike protein-coding genes, ALSINC produces a functional RNA transcript that does not encode a protein. Long non-coding RNAs like ALSINC have emerged as crucial regulators of gene expression, and their dysfunction has been linked to various neurodegenerative disorders.
ALSINC participates in multiple RNA processing mechanisms essential for neuronal health:
Alternative splicing regulation: ALSINC modulates the alternative splicing of specific transcripts, including those encoding proteins critical for motor neuron survival. The lncRNA interacts with splicing factors to influence splice site selection.
RNA binding protein recruitment: ALSINC serves as a scaffold for RNA-binding proteins, bringing together components of the splicing machinery at specific genomic loci.
Transcriptional regulation: The lncRNA may influence transcription of neighboring genes through chromatin remodeling and epigenetic modifications.
ALSINC contributes to nuclear architecture:
Nuclear body formation: lncRNAs often localize to specific nuclear compartments. ALSINC may participate in the formation or maintenance of nuclear bodies involved in RNA processing.
Chromatin interaction: The RNA can interact with chromatin modifiers, potentially regulating the expression of genes involved in neuronal survival.
ALSINC is particularly important for motor neuron biology:
ALSINC exhibits tissue-specific expression patterns:
The selective expression of ALSINC in motor neurons explains its specific involvement in ALS pathology rather than broader neurodegenerative conditions.
Expression data is available from the Allen Brain Atlas.
ALSINC mutations cause autosomal recessive ALS, representing a significant discovery in understanding the genetic basis of this disease.
| Feature | Description |
|---|---|
| Inheritance | Autosomal recessive |
| Mutation type | Loss-of-function mutations |
| Mutation consequence | Impaired RNA processing and splicing |
| Penetrance | Complete in homozygous/compound heterozygous |
Patients with ALSINC mutations present with typical ALS features:
The disease progression is rapid, with median survival of 2-4 years from symptom onset, consistent with other forms of ALS.
Loss of ALSINC function leads to:
ALSINC interacts with multiple molecular partners:
Understanding ALSINC function has revealed potential therapeutic approaches:
Antisense oligonucleotides: ASOs targeting ALSINC could potentially:
Gene therapy: Viral vector delivery of functional ALSINC:
Small molecule modulators: Compounds that:
ALSINC may serve as a biomarker:
ALSINC represents a unique category among ALS-causing genes:
| Gene | Product | Function | Inheritance |
|---|---|---|---|
| ALSINC | lncRNA | RNA processing/splicing | Recessive |
| SOD1 | Superoxide dismutase | Oxidative stress response | Dominant |
| C9orf72 | Protein | RNA granule function | Dominant |
| TDP-43 | Protein | RNA binding | Dominant |
| FUS | Protein | RNA binding | Dominant |
The recessive inheritance of ALSINC distinguishes it from most other ALS-causing genes, which are autosomal dominant.
Current research focuses on: