Thumbnail Image
Project Title
Prodromal manifestations of Parkinson´s disease in a high-risk population: 22q11.2 microdeletion syndrome
Partner Organisations
Internal ID
1171014
Principal Investigator
Status
TERMINADO
Start Date
2017
Investigators

Filters

Reset filters

Settings
Now showing 1 - 3 of 3
No Thumbnail Available
Publication

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

2020 , Isabelle Cleynen , Worrawat Engchuan , Matthew S. Hestand , Tracy Heung , Aaron M. Holleman , H. Richard Johnston , Thomas Monfeuga , Donna M. McDonald-McGinn , Raquel E. Gur , Bernice E. Morrow , Ann Swillen , Jacob A. S. Vorstman , Carrie E. Bearden , Eva W. C. Chow , Marianne van den Bree , Beverly S. Emanuel , Joris R. Vermeesch , Stephen T. Warren , Michael J. Owen , Pankaj Chopra , David J. Cutler , Richard Duncan , Alex V. Kotlar , Jennifer G. Mulle , Anna J. Voss , Michael E. Zwick , Alexander Diacou , Aaron Golden , Tingwei Guo , Jhih-Rong Lin , Tao Wang , Zhengdong Zhang , Yingjie Zhao , Christian Marshall , Daniele Merico , Andrea Jin , Brenna Lilley , Harold I. Salmons , Oanh Tran , Peter Holmans , Antonio Pardinas , James T. R. Walters , Wolfram Demaerel , Erik Boot , Nancy J. Butcher , Gregory A. Costain , Chelsea Lowther , Rens Evers , Therese A. M. J. van Amelsvoort , Esther van Duin , Claudia Vingerhoets , Jeroen Breckpot , Koen Devriendt , Elfi Vergaelen , Annick Vogels , T. Blaine Crowley , Daniel E. McGinn , Edward M. Moss , Robert J. Sharkus , Marta Unolt , Elaine H. Zackai , Monica E. Calkins , Robert S. Gallagher , Ruben C. Gur , Sunny X. Tang , Rosemarie Fritsch , Claudia Ornstein , REPETTO LISBOA, MARIA GABRIELA , Elemi Breetvelt , Sasja N. Duijff , Ania Fiksinski , Hayley Moss , Maria Niarchou , Kieran C. Murphy , Sarah E. Prasad , Eileen M. Daly , Maria Gudbrandsen , Clodagh M. Murphy , Declan G. Murphy , Antonio Buzzanca , Fabio Di Fabio , Maria C. Digilio , Maria Pontillo , Bruno Marino , Stefano Vicari , Karlene Coleman , Joseph F. Cubells , Opal Y. Ousley , Miri Carmel , Doron Gothelf , Ehud Mekori-Domachevsky , Elena Michaelovsky , Ronnie Weinberger , Abraham Weizman , Leila Kushan , Maria Jalbrzikowski , Marco Armando , Stéphan Eliez , Corrado Sandini , Maude Schneider , Frédérique Sloan Béna , Kevin M. Antshel , Wanda Fremont , Wendy R. Kates , Raoul Belzeaux , Tiffany Busa , Nicole Philip , Linda E. Campbell , Kathryn L. McCabe , Stephen R. Hooper , Kelly Schoch , Vandana Shashi , Tony J. Simon , Flora Tassone , Celso Arango , David Fraguas , Sixto García-Miñaúr , Jaume Morey-Canyelles , Jordi Rosell , Damià H. Suñer , Jasna Raventos-Simic , Michael P. Epstein , Nigel M. Williams , Anne S. Bassett

View
No Thumbnail Available
Publication

Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome

2021 , REBOLLEDO JARAMILLO, BORIS EDUARDO , Maria Gabriela Obregon , Victoria Huckstadt , Abel Gomez , REPETTO LISBOA, MARIA GABRIELA

Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes, and since mitochondrial function is critical during development, we hypothesized that changes in the mitochondrial DNA (mtDNA) could be involved in the intrafamilial variability of CHD and PA in cases of maternally inherited 22q11.2DS. To investigate this, we studied the transmission of heteroplasmic mtDNA alleles in seventeen phenotypically concordant and discordant mother-offspring 22q11.2DS pairs. We sequenced their mtDNA and identified 26 heteroplasmic variants at >1% frequency, representing 18 transmissions. The median allele frequency change between a mother and her child was twice as much, with a wider distribution range, in PA discordant pairs, p-value = 0.039 (permutation test, 11 concordant vs. 7 discordant variants), but not in CHD discordant pairs, p-value = 0.441 (9 vs. 9). Only the variant m.9507T>C was considered to be pathogenic, but it was unrelated to the structural phenotypes. Our study is novel, yet our results are not consistent with mtDNA variation contributing to PA or CHD in 22q11.2DS. Larger cohorts and additional factors should be considered moving forward.

View
No Thumbnail Available
Publication

Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners

2021 , UNDURRAGA FOURCADE, JUAN PABLO , Ignacio Bórquez-Infante , Nicolás A. Crossley , Miguel L. Prieto , REPETTO LISBOA, MARIA GABRIELA

Use of pharmacogenetics (PGx) testing to guide clinical decisions is growing in developed countries. Published guidelines for gene–drug pair analysis are available for prescriptions in psychiatry, but information on their utilization, barriers, and health outcomes in Latin America is limited. As a result, this work aimed at exploring current use, opinions, and perceived obstacles on PGx testing among psychiatrists in Chile, via an online, anonymous survey. Among 123 respondents (5.9% of registered psychiatrists in the country), 16.3% reported ever requesting a PGx test. The vast majority (95%) of tests were ordered by clinicians practicing in the Metropolitan Region of Santiago. Having more than 20 years in practice was positively associated with prior use of PGx (p 0.02, OR 3.74 (1.19–11.80)), while working in the public health system was negatively associated (OR 0.30 (0.10–0.83)). Perceived barriers to local implementation included insufficient evidence of clinical utility, limited clinicians’ knowledge on PGx and on test availability, and health systems’ issues, such as costs and reimbursement. Despite the recognition of these barriers, 80% of respondents asserted that it is likely that they will incorporate PGx tests in their practice in the next five years. Given these results, we propose next steps to facilitate implementation such as further research in health outcomes and clinical utility of known and novel clinically actionable variants, growth in local sequencing capabilities, education of clinicians, incorporation of clinical decision support tools, and economic evaluations, all in local context.

View