Back اعتلال الصفيحة النووية Arabic Laminopathie French Laminopatía Galician ラミノパシー Japanese Laminopathie Dutch
| Laminopathy | |
|---|---|
 | |
| Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence - note the irregular and bumpy shape of the laminopathic nuclei[1] | |
| Specialty | Clinical Genetics |
| Symptoms | Muscle weakness, reduced sensation, shortness of breath, syncope |
| Complications | Diabetes, heart failure, arrhythmias |
| Usual onset | Variable |
| Duration | Lifelong |
| Causes | Genetic |
| Diagnostic method | Clinical, genetic testing |
| Treatment | Physiotherapy, orthopaedic surgery, pacemaker, implantable defibrillator |
| Medication | ACE inhibitor, beta blocker, aldosterone antagonist |
| Prognosis | Variable |
Laminopathies (lamino- + -pathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with inner nuclear membrane proteins are known as nuclear envelopathies.[2]
- ^ Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005). "Dermal fibroblasts in Hutchinson–Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress". BMC Cell Biol. 6: 27. doi:10.1186/1471-2121-6-27. PMC 1183198. PMID 15982412.
- ^ Chi, YH; Chen, ZJ; Jeang, KT (22 October 2009). "The nuclear envelopathies and human diseases". Journal of Biomedical Science. 16 (1): 96. doi:10.1186/1423-0127-16-96. PMC 2770040. PMID 19849840.