PARK genes
PARK genes are genes associated with the hereditary form of Parkinson's disease.
The relationship of PARK genes to the development of Parkinson's disease
Parkinson's disease (PD) is a chronic neurological disease, the pathological-anatomical basis of which is the formation of intracellular inclusions containing alpha-synuclein and the premature death of pigmented neurons in the pars compacta substantia nigra. This causes a lack of the neurotransmitter dopamine in the striatum, and thus an insufficiency of stimulation of the dopaminergic receptors D1 and D2. The direct consequence of this deficit is the dysfunction of the motor circuits of the basal ganglia. These connections play an essential role in the regulation of free motor skills, deciding on the selection of appropriate and inhibition of inappropriate movement patterns and synergisms.
The cause of PD is still unknown. We distinguish between genetically conditioned and sporadic forms of the disease.
It is assumed that most cases are the result of a combination of a certain genetic predisposition and long-term exposure to toxins from the environment, or certain products of metabolism. Scientific research has led to the identification of several monogenic forms of the disorder and many genetic risk factors that increase the risk of developing PD. The hereditary form collectively accounts for 20% of PD cases before the age of 40 and 2% of patients after the age of 50.
PD, která je geneticky ovlivnitelná, má několik typů s ohledem na věk nástupu:
- juvenilní (věk nástupu ≤ 21 let),
- EOPD (early onset PD – věk nástupu do 30 let),
- PD s brzkým počátkem (věk nástupu ≤ 50 let),
- klasická forma.
Formy PARK genů
V současnosti je známo několik PARK genů, ze kterých nejvýznamnější jsou uvedeny v tabulce:
| Symbol | Lokus | Onemocnění | Dědičnost | Gen |
|---|---|---|---|---|
| PARK1 | 4q21-22 | EOPD | AD | SNCA |
| PARK2 | 6q25.2-q27 | EOPD | AR | Parkin |
| PARK3 | 2p13 | klasická PD | AD | Neznámý |
| PARK4 | 4q21-q23 | EOPD | AD | SNCA |
| PARK5 | 4p13 | klasická PD | AD | UCHL1 |
| PARK6 | 1p35-p36 | EOPD | AR | PINK1 |
| PARK7 | 1p36 | EOPD | AR | DJ-1 |
| PARK8 | 12q12 | klasická PD | AD | LRRK2 |
| PARK9 | 1p36 | Kufor-Rakeb syndrom | AR | ATP13A2 |
Iron
