Neurol. pro Praxi, 2007; 3: 159-161

Monogenně podmíněné formy Parkinsonovy nemoci

doc. MUDr. Jan Roth, CSc.
Neurologická klinika 1. LF UK a VFN, Praha

Nejčastější monogenně podmíněné formy PN vznikají na podkladě mutací v genu PARK 2 (protein parkin), PARK 6 (protein PINK1), PARK 7 (protein DJ1) a PARK 8 (protein LRRK-2). U PARK 8 se jedná o autozomálně dominantní způsob přenosu, u ostatních uvedených o autozomálně recesivní typ. Všechny tyto mutace dohromady jsou zodpovědny za maximálně 20 % případů vzniků PN, kdy nemoc začne před 40. rokem věku a za maximálně 2 % případů vzniku PN po 50. roce věku. Mechanizmy účinků aberantních proteinů nejsou známy, diskutuje se význam apoptózy a poruchy v ubiquitin-proteazomovém systému.

Keywords: parkin, PINK1, DJ1, LRRK2, ubiquitin-proteazomový komplex, apoptóza

Published: August 1, 2007  Show citation

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Roth J. Monogenně podmíněné formy Parkinsonovy nemoci. Neurol. praxi. 2007;8(3):159-161.
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    References

    1. Barbeau A, Roy M, Boyer L. Genetic studies in Parkinson's disease. Adv Neurol 1984; 40: 333-339.
    2. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299: 256-259. Go to original source... Go to PubMed...
    3. Di Monte DA. Mitochondrial DNA and Parkinson´s Disease. Neurology 1991; 41 (Suppl. 2): 38-43. Go to original source... Go to PubMed...
    4. Duvoisin RC, Johnson WG. Hereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease. Brain Pathol 1992; 2: 309-320. Go to original source... Go to PubMed...
    5. Friedlander RM. Apoptosis and Caspases in Neurodegenerative Diseases. N Engl J Med 2003; 384: 1365-1375. Go to original source... Go to PubMed...
    6. Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11,2-q13,1. Ann Neurol 2002; 51: 296-301. Go to original source... Go to PubMed...
    7. Hague SM, Klaffke S, Bandmann O. Neurodegenerative disorders: Parkinson´s disease and Huntington´s disease. J Neurol Neurosurg Psychiatry 2005; 76: 1058-1063. Go to original source... Go to PubMed...
    8. Hengartner MO. The biochemistry of apoptosis. Nature 2000; 407: 770-776. Go to original source... Go to PubMed...
    9. Kaytor MD, Warren ST. Aberrant protein deposition and neurological disease. Journal of Biological Chemistry 1999; 5: 37507-37510. Go to original source... Go to PubMed...
    10. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605-608. Go to original source... Go to PubMed...
    11. Klein C. Implications of Genetics on the Diagnosis and Care of Patiens with Parkinson´s disease. Arch Neurol 2006; 63: 328-334. Go to original source... Go to PubMed...
    12. Martin WE, Young WI, Anderson VE. Parkinson's disease: a genetic study. Brain 1973; 96: 495-506. Go to original source... Go to PubMed...
    13. Paisan-Ruiz C, Jain S, Evans EW et al. Clonign of the gene containing mutations that cause PARK8-linked Parkinson´s disease. Neuron 2004; 44: 596-600. Go to original source... Go to PubMed...
    14. Shastry BS Neurodegenerative disorders of protein aggregation. Neurochemistry International 2003; 43: 1-7. Go to PubMed...
    15. Tanner CM, Ottmann R, Goldman SM, Ellenberg J, Chan P, Mayeux R et al. Parkinson's disease in twins: an etiologic study. JAMA 1999; 281: 341-346. Go to original source... Go to PubMed...
    16. Valente EM, Abou-Sieiman PM, Valuto V et al. Hereditary early-onset Parkinson´s disease cause by mutations in PINK1. Science 2004; 304: 1158-1160. Go to original source... Go to PubMed...
    17. Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on chromosome 1p35-p36. Am J Hum Genet 2001; 68: 895-900. Go to original source... Go to PubMed...
    18. van Duijn CM, Dekker MCJ, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ et al. PARK7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 2001; 69: 629-634. Go to original source... Go to PubMed...
    19. Ward CD, Duvoisin RC, Ince SE, et al. Parkinson´s Disease in 65 pairs of twins and in a set of quadruplets. Neurology 1983; 33: 815-824. Go to original source... Go to PubMed...
    20. Zimprich A, Biskup S, Leitner P et al. Mutations in LRRK2 cause autosomal dominant parkinsonism with pleiomorphic pathology. Neuron 2004; 44: 601-607. Go to original source... Go to PubMed...

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