Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew D. Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hulya Kayserili, Jumana Y. Al-Aama, Ghada M. H. Abdel-Salam, Ariana Karminejad, Majdi Kara, Bulent Kara, Bita Bozorgmehri, Tawfeg Ben-Omran, Faezeh Mojahedi, Iman Gamal El Din Mahmoud, Naima Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al-Allawi, P.S. Bindu, Matloob Azam, Murat Gunel, Ahmet Caglayan, Kaya Bilguvar, Aslihan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily G. Spencer, Rasim O. Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Durr, Alexis Brice, Giovanni Stevanin, Stacy B. Gabriel, Trey Ideker, Joseph G. Gleeson
Science. 2014-01-31; 343(6170): 506-511
DOI: 10.1126/science.1247363
Lire sur PubMed
Science. 2014-01-31; 343(6170): 506-511
DOI: 10.1126/science.1247363
Lire sur PubMed
Neurodegenerative Genetics
The underlying genetics of neurodegenerative disorders tend not to be well understood.
Novarino
et al.
(p.
506
; see the Perspective by
Singleton
) investigated the underlying genetics of hereditary spastic paraplegia (HSP), a human neurodegenerative disease, by sequencing the exomes of individuals with recessive neurological disorders. Loss-of-function gene mutations in both novel genes and genes previously implicated for this condition were identified, and several were functionally validated.