Table 2.
Representative PLA2 mutations in human diseases
| Families | PLA2 genes | Human diseases | References |
|---|---|---|---|
| cPLA2 | PLA2G4A | Platelet dysfunction, Intestinal ulceration | 35 |
| iPLA2 | PNPLA1 | Ichthyosis | 177 |
| PNPLA2 | Chanarin-Dorfman syndrome (neutral lipid strage disease with myopathy) | 178 | |
| PNPLA3 | Non-alchoholic fatty liver disease (NASH, NAFLD) | 63 | |
| PNPLA6 | Ataxia, Hereditary spastic paraplegia, Boucher-Neuhauser and Gordon Holmes syndromes | 179 | |
| Photoreceptor degeneration | 53 | ||
| PNPLA7 | Psychophysiological endophenotype | 180 | |
| PNPLA8 | Myopathy | 51 | |
| PNPLA9/PLA2G6 | Parkinson’s disease, Infantile neuroaxonal dystrophy (INAD) | 49 | |
| Familial melanoma | 181 | ||
| PAFAH | PAFAH/PLA2G7A | Cardiovascular disease | 182 |
| ABHD | ABHD5 | Chanarin-Dorfman Syndrome with ichtyosis | 98 |
| ABHD12 | PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract) | 97 | |
| sPLA2 | PLA2G1B | Obesity | 109 |
| PLA2G2A | Cardiovascular disease | 142, 183 | |
| Gastric cancer | 184 | ||
| PLA2G2D | Body weight loss in COPD (chronic obstructive pulmonary disease) | 185 | |
| PLA2G2E | Ulcerative colitis | 186 | |
| PLA2G3 | Colorectal cancer | 187, 188 | |
| Alzheimer’s disease | 189 | ||
| PLA2G5 | Hyperlipidemia in type II diabetes | 114, 190 | |
| Benign fleck retina | 191 | ||