Table 2.
Summary of the splice variants described in this review known to play a role in metabolic diseases.
| Gene | Changes of Variant Level in Pathological Conditions of Obese Subject | Key Changes in Metabolic Phenotypes | References |
|---|---|---|---|
| Insulin receptor (IR) | Increase IR-A (skipping of exon 11) in the liver | Correlate with fasting plasma glucose and insulin level | [41,42,43] |
| Leptin receptor (OB-R) | Decrease soluble OB-R * | Correlate with body mass index | [52,53,54] |
| LMNA | Increase Lamin C in subcutaneous adipose tissue | Correlate with type 2 diabetes | [72] |
| Lipin-1 | Increase Lipin 1-A (skipping of 7) in liver | Cause alcoholic fatty liver disease | [76] |
| RNA Binding Protein, Fox-1 Homolog 2 (RBFOX2) | Increase truncated RBFOX2 (skipping of exon 6) in heart | Lower calcium handling in diabetic heart | [81] |
| Serotonin 2C receptor (5-HTR2c) | Increase truncated 5-HTR2c (skipping of exon 5b) in brain | Reduce satiety and enhance food intake | [109] |
Remark: * The mechanisms of the soluble OB-R production in human and mouse are different [55].