A genetic cluster of early onset Parkinson's disease in a Colombian population

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-12, Vol.141B (8), p.885-889
• Main Authors: Pineda-Trujillo, Nicolas, Apergi, Maria, Moreno, Sonia, Arias, William, Lesage, Suzanne, Franco, Alejandro, Sepulveda-Falla, Diego, Cano, David, Buriticá, Omar, Pineda, David, Uribe, Carlos Santiago, de Yebenes, Justo Garcia, Lees, Andrew J., Brice, Alexis, Bedoya, Gabriel, Lopera, Francisco, Ruiz-Linares, Andres
• Format: Article
• Language: English
• Subjects: Adult and adolescent clinical studies; Biological and medical sciences; Cluster Analysis; Colombia; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Primers; Female; Founder Effect; Fundamental and applied biological sciences. Psychology; Genetic Testing; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes - genetics; Human; Humans; Male; Medical genetics; Medical sciences; Microsatellite Repeats - genetics; Mutation, Missense - genetics; Neurology; Organic mental disorders. Neuropsychology; parkin; Parkinson; Parkinson Disease - genetics; Pedigree; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Population genetics, reproduction patterns; population isolate; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Ubiquitin-Protein Ligases - genetics
• ISSN: 1552-4841; 1552-485X
• DOI: 10.1002/ajmg.b.30375

We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.