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==The relationship of PARK genes to the development 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''. To způsobuje nedostatek neurotransmiteru [[Dopamin|dopaminu]] ve striatu, a tím i insuficienci stimulace dopaminergních receptorů '''D1''' a '''D2'''. Přímým následkem tohoto deficitu je dysfunkce motorických okruhů bazálních ganglií. Tyto spoje sehrávají podstatnou roli v regulaci volní motoriky, rozhodují o výběru vhodných a inhibici nevhodných pohybových vzorců a synergismů.  
'''[[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|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.


Příčina PD není dodnes známa. Rozlišujeme formy onemocnění na '''geneticky podmíněné''' a '''sporadické'''.  
The cause of PD is still unknown. We distinguish between '''genetically conditioned''' and '''sporadic''' forms of the disease.  


Předpokládá se, že většina případů je výsledkem kombinace určité genetické predispozice a dlouhodobého působení toxinů ze životního prostředí, resp. jistých produktů metabolismu. Vědecké výzkumy vedly k identifikaci několika monogenních forem poruchy a mnohých genetických rizikových faktorů, které zvyšují riziko rozvoje PD. Hereditární forma souhrnně tvoří 20 % případů u PD před 40. rokem života a 2 % pacientů po 50. roce života.  
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''':  
PD, which is genetically influenced, has several types with regard to the '''age of onset''':  


*'''juvenilní''' (věk nástupu ≤ 21 let),
*'''juvenile''' (age of onset ≤ 21 years)
*'''EOPD''' (''early onset PD'' – věk nástupu do 30 let),
*'''EOPD''' (''early onset PD'' –age of onset under 30 years)
*PD s '''brzkým počátkem''' (věk nástupu ≤ 50 let),
*'''Early onset''' PD (age of onset ≤ 50 years)
*'''klasická forma'''.
*'''Classic form'''.


===Formy PARK genů===
===Forms of PARK genes ===


V současnosti je známo několik  PARK genů, ze kterých nejvýznamnější jsou uvedeny v tabulce:
Several PARK genes are currently known, the most important of which are listed in the table:


{| class="wikitable"
{| class="wikitable"
|+Tab. 1: Souhrn genů hereditární Parkinsonovy choroby
|+Tab. 1: Summary of Hereditary Parkinson's Disease Genes
  !Symbol!!Lokus!!Onemocnění!!Dědičnost!!Gen
  !Symbol!!Locus!!Illness!!Heridity!!Gene
  |-  
  |-  
  | align="center" |PARK1|| align="center" |4q21-22|| align="center" |EOPD|| align="center" |AD|| align="center" |''SNCA''
  | align="center" |PARK1|| align="center" |4q21-22|| align="center" |EOPD|| align="center" |AD|| align="center" |''SNCA''
Line 27: Line 27:
  | align="center" |PARK2|| align="center" |6q25.2-q27|| align="center" |EOPD|| align="center" |AR|| align="center" |''Parkin''
  | align="center" |PARK2|| align="center" |6q25.2-q27|| align="center" |EOPD|| align="center" |AR|| align="center" |''Parkin''
  |-
  |-
  | align="center" |PARK3|| align="center" |2p13|| align="center" |klasická PD|| align="center" |AD|| align="center" |Neznámý
  | align="center" |PARK3|| align="center" |2p13|| align="center" |classic PD|| align="center" |AD|| align="center" |Unknown
  |-
  |-
  | align="center" |PARK4|| align="center" |4q21-q23|| align="center" |EOPD|| align="center" |AD|| align="center" |''SNCA''
  | align="center" |PARK4|| align="center" |4q21-q23|| align="center" |EOPD|| align="center" |AD|| align="center" |''SNCA''
  |-
  |-
  | align="center" |PARK5|| align="center" |4p13|| align="center" |klasická PD|| align="center" |AD|| align="center" |''UCHL1''
  | align="center" |PARK5|| align="center" |4p13|| align="center" |classic PD|| align="center" |AD|| align="center" |''UCHL1''
  |-
  |-
  | align="center" |PARK6|| align="center" |1p35-p36|| align="center" |EOPD|| align="center" |AR|| align="center" |''PINK1''
  | align="center" |PARK6|| align="center" |1p35-p36|| align="center" |EOPD|| align="center" |AR|| align="center" |''PINK1''
Line 37: Line 37:
  | align="center" |PARK7|| align="center" |1p36|| align="center" |EOPD|| align="center" |AR|| align="center" |''DJ-1''
  | align="center" |PARK7|| align="center" |1p36|| align="center" |EOPD|| align="center" |AR|| align="center" |''DJ-1''
  |-
  |-
  | align="center" |PARK8|| align="center" |12q12|| align="center" |klasická PD|| align="center" |AD|| align="center" |''LRRK2''
  | align="center" |PARK8|| align="center" |12q12|| align="center" |classic PD|| align="center" |AD|| align="center" |''LRRK2''
  |-
  |-
  | align="center" |PARK9|| align="center" |1p36|| align="center" |Kufor-Rakeb syndrom|| align="center" |AR|| align="center" |''ATP13A2''
  | align="center" |PARK9|| align="center" |1p36|| align="center" |Kufor-Rakeb syndrome|| align="center" |AR|| align="center" |''ATP13A2''
|}
|}


{{Podrobnosti | /podrobnosti}}
{{Details | the /Details page }}


==Odkazy==
==Links==
===Související články===
===Related Articles===


*[[Parkinsonova choroba]]
*[[Parkinson's disease]]
*[[Bazální ganglia]]
*[[Basal ganglia]]
*[[Dopamin]]
*[[Dopamine]]
*[[Antiparkinsonika]]
*[[Antiparkinson Drugs]]


===Použitá literatura===
===References===
{{Citace
{{Cite
| typ = web
| type = web
| příjmení1 = Kollárová
| surname1 = Kollar
| jméno1 = Katarína
| name1 = Katarina et al.
| kolektiv = ano
| collection = one
| url = https://www.neurologiepropraxi.cz/pdfs/neu/2007/06/08.pdf
| url = https://www.neurologiepropraxi.cz/pdfs/neu/2007/06/08.pdf
| název = Genetika parkinsonovej choroby
| source_name = Genetics of Parkinson's Disease (online)
| vydavatel = Neurologie pro praxi
| Publisher = Neurology for Practice
| rok = 2007
| year = 2007
| citováno = 2020-04-16
| cited = 2020-04-16
}}
}}
{{Citace
{{Cite
| typ = web
| type = web
| příjmení1 = Klein
| surname1 = Klein
| jméno1 = Christine
| name1 = Christine
| kolektiv = ano
| collection = one
| url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033/
| url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033/
| název = Genetics of Parkinson’s Disease
| source_name = Genetics of Parkinson’s Disease
| rok = 2012
| year = 2012
| citováno = 2020-04-16
| cited = 2020-04-16
}}
}}


[[Kategorie:Neurologie]]
[[Category:Neurology]]
[[Kategorie:Neurowiki]]
[[Category:Neurowiki]]
[[Kategorie:Genetika]]
[[Category:Genetics]]

Latest revision as of 23:10, 1 January 2024

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[edit | edit source]

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, which is genetically influenced, has several types with regard to the age of onset:

  • juvenile (age of onset ≤ 21 years)
  • EOPD (early onset PD –age of onset under 30 years)
  • Early onset PD (age of onset ≤ 50 years)
  • Classic form.

Forms of PARK genes[edit | edit source]

Several PARK genes are currently known, the most important of which are listed in the table:

Tab. 1: Summary of Hereditary Parkinson's Disease Genes
Symbol Locus Illness Heridity Gene
PARK1 4q21-22 EOPD AD SNCA
PARK2 6q25.2-q27 EOPD AR Parkin
PARK3 2p13 classic PD AD Unknown
PARK4 4q21-q23 EOPD AD SNCA
PARK5 4p13 classic PD AD UCHL1
PARK6 1p35-p36 EOPD AR PINK1
PARK7 1p36 EOPD AR DJ-1
PARK8 12q12 classic PD AD LRRK2
PARK9 1p36 Kufor-Rakeb syndrome AR ATP13A2
Searchtool right.svg For more information see the /Details page .

Links[edit | edit source]

Related Articles[edit | edit source]

References[edit | edit source]

KOLLAR, Katarina et al.. Genetics of Parkinson's Disease (online) [online]. ©2007. [cit. 2020-04-16]. <https://www.neurologiepropraxi.cz/pdfs/neu/2007/06/08.pdf>.

KLEIN, Christine. Genetics of Parkinson’s Disease [online]. ©2012. [cit. 2020-04-16]. <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033/>.

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