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KEGG Pathway Report
Basic Info
| ID | hsa05014 |
|---|---|
| Name | Amyotrophic lateral sclerosis (ALS) |
| Description | Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. Mutant superoxide dismutase 1 (SOD1), as seen in some familial ALS (FALS) cases, is unstable, forming aggregates in the motor neuron cytoplasm, axoplasm and mitochondria. Within mitochondria, mutant SOD1 may interfere with the anti-apoptotic function of Bcl-2, affect mitochondrial import by interfering with the translocation machinery (TOM/TIM), and generate toxic free radicals (ROS). Reactive oxygen species (ROS), produced within mitochondria, inhibit the function of EAAT2, the main glial glutamate transporter protein, responsible for most of the reuptake of synaptically released glutamate. Glutamate excess increases intracellular calcium, which enhances oxidative stress and mitochondrial damage. Mutant SOD1 can also trigger oxidative reactions , which can then cause damage through the formation of hydroxyl radicals or via nitration of tyrosine residues on proteins. Nitration may target neurofilament proteins, affecting axonal transport. Collectively, these mechanisms are predicted to disturb cellular homeostasis, ultimately triggering motor neuron death. |
| No. of Genes in ADHDgene | 11 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 11)
Literature-origin genes (count: 4)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| NOS1 | nitric oxide synthase 1 (neuronal) | 12q14-qter | 1(1/0/0) |
| GRIN2A | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16p13.2 | 3(1/2/0) |
| GRIN2B | glutamate receptor, ionotropic, N-methyl D-aspartate 2B | 12p12 | 1(1/0/0) |
| MAP2K3 | mitogen-activated protein kinase kinase 3 | 17q11.2 | 1(0/1/0) |
Genes from other sources (count: 7)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| CCS | copper chaperone for superoxide dismutase | 11 | Mapped by significant region |
| DAXX | death-domain associated protein | 6p21.3 | Mapped by LD-proxy; Mapped by PBA pathway |
| CASP1 | caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) | 11q23 | Mapped by significant region |
| BAD | BCL2-associated agonist of cell death | 11q13.1 | Mapped by significant region |
| PPP3R2 | protein phosphatase 3, regulatory subunit B, beta | 9q31 | Mapped by significant region |
| MAP3K5 | mitogen-activated protein kinase kinase kinase 5 | 6q22.33 | Mapped by LD-proxy; Mapped by significant region |
| CYCS | cytochrome c, somatic | 7p21.2 | Mapped by CNV; Mapped by significant region |