Barcelona, Spain: New genetic mutations responsible for impaired fetal movement, which leads to a multitude or problems in later life as well as early spontaneous abortion, have been identified by a group of ...

Knowing that you have a high-risk cancer gene mutation offers the chance to take preventive actions All cancers are genetic in origin.

A puzzling medical condition, identified more than 2,000 years ago by Hippocrates, has finally been explained by researchers at the University of Leeds.

Finding may help direct new treatment and cures Imagine "blanking out" of consciousness up to 200 times daily while you're learning in a classroom, playing baseball, taking ballet lessons or riding a bike.

In 1999, when Dr. Huda Zoghbi and her Baylor College of Medicine colleagues identified a mutation of the gene MeCP2 as the culprit in Rett syndrome, a neurodevelopmental disorder, the discovery was only the ...

NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

Nature Genetics 40, 844 (2008). doi:10.1038/ng.155

Authors: Rainer Fagerholm, Barbara Hofstetter, Johanna Tommiska, Kirsimari Aaltonen, Radek Vrtel, Kirsi Syrjäkoski, Anne Kallioniemi, Outi Kilpivaara, Arto Mannermaa, Veli-Matti Kosma, Matti Uusitupa, Matti Eskelinen, Vesa Kataja, Kristiina Aittomäki, Karl von Smitten, Päivi Heikkilä, Jiri Lukas, Kaija Holli, Jirina Bartkova, Carl Blomqvist, Jiri Bartek & Heli Nevanlinna

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

Nature Genetics 40, 892 (2008). doi:10.1038/ng.170

Authors: Lars G Fritsche, Thomas Loenhardt, Andreas Janssen, Sheila A Fisher, Andrea Rivera, Claudia N Keilhauer & Bernhard H F Weber

Age-related macular degeneration (AMD) is a prevalent multifactorial disorder of the central retina. Genetic variants at two chromosomal loci, 1q31 and 10q26, confer major disease risks, together accounting for more than 50% of AMD pathology. Signals at 10q26 center over two nearby genes, ARMS2 (age-related maculopathy susceptibility 2, also known as LOC387715) and HTRA1 (high-temperature requirement factor A1), suggesting two equally probable candidates. Here we show that a deletion-insertion polymorphism in ARMS2 (NM_001099667.1:c.*372_815del443ins54) is strongly associated with AMD, directly affecting the transcript by removing the polyadenylation signal and inserting a 54-bp element known to mediate rapid mRNA turnover. As a consequence, expression of ARMS2 in homozygous carriers of the indel variant is not detectable. Confirming previous findings, we demonstrate a mitochondrial association of the normal protein and further define its retinal localization to the ellipsoid region of the photoreceptors. Our data suggest that ARMS2 has a key role in AMD, possibly through mitochondria-related pathways.

Strong association of de novo copy number mutations with sporadic schizophrenia

Nature Genetics 40, 880 (2008). doi:10.1038/ng.162

Authors: Bin Xu, J Louw Roos, Shawn Levy, E J van Rensburg, Joseph A Gogos & Maria Karayiorgou

Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy number (CN) mutations with relatively high penetrance contribute to the genetic component of schizophrenia. We carried out a whole-genome scan and implemented a number of steps for finding and confirming CN mutations. Confirmed de novo mutations were significantly associated with schizophrenia (P = 0.00078) and were collectively ∼8 times more frequent in sporadic (but not familial) cases with schizophrenia than in unaffected controls. In comparison, rare inherited CN mutations were only modestly enriched in sporadic cases. Our results suggest that rare de novo germline mutations contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many different loci can account, at least in part, for the genetic heterogeneity of this disease.

Genzyme Genetics announced today that it now offers KRAS mutation testing for colorectal cancer.