MDNews - Minnesota

September 2017

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AMYOTROPHIC L ATER AL SCLEROSIS AND SCHIZOPHRENIA SHARE GENE TIC ORIGINS, ACCORDING TO RECENT RESE ARCH PUBLISHED IN NATURE COMMUNICATIONS. THAT FINDING HA S THE POTENTIAL TO CHANGE HOW NEUROLOGICAL AND PSYCHIATRIC DISE A SES ARE STUDIED AND FURTHERS HOPES OF CURING BOTH CONDITIONS. May Spur New Paths of Research BY TIFFANY PARNELL ALTHOUGH SCIENTISTS HAVE made strides in understanding A LS, a cure remains elusive. One goa l of current A LS research effor ts is to uncover the genes responsible for the disease's development, paving the way for effective, targeted therapies. THE SCHIZOPHRENIA-ALS CONNECTION The internationa l team of researchers involved in the Nature Communications study had reason to believe A LS and schizo- phrenia may be biolog ica lly related. "In 2013, we investigated what other diseases are obser ved in the fa milies of A LS patients, a nd we found that psychosis wa s sig n i f ica nt ly more f requent t ha n ex pected i n f i rst- a nd second-deg ree relatives of A LS patients," says Russell McLaughlin, the study 's lead author a nd Assista nt Professor i n G enome A na lysis at Tr i n it y Col lege i n Dubli n . " Th is wa s despite no clea r co - occu r rence of t he t wo d isea ses in indiv idua l patients. This suggested to us t hat some of the genetic risk factors bet ween the t wo disea ses may be the sa me, w ith other factors — genetic, env ironmenta l or other — determining which trajector y a patient ultimately ta kes: A LS, schizophrenia or both." To test t h is hy pot hesis, t he tea m exa m i ned data f rom a r e c e nt ly p u b l i s h e d ge n om e -w i d e a s s o c i a t ion s t u d y (GWA S) for A LS a nd data from the Psychiatric Genomics Consor tium's 2013 GWAS for schizophrenia . "The study confi rmed the biologic overlap between ALS and schizophrenia," says Orla Hardiman, BSc, MD, FRCPI, FA AN, FTCD, MRIA, Professor of Neurolog y at Trinity College and the study's senior author and lead investigator. " We identifi ed a 14 percent overlap in at-risk genes. ... So, the interpretation is that some forms of ALS and some neuropsychiatric conditions sha re a common biolog ica l basis. W hat could this be? We propose that it may relate to synaptic integrity — important in both conditions — and the integrity of brain networks; there is strong evidence of disruption in both conditions." FROM LAB TO BEDSIDE W hile it 's too soon to determine what clinica l implications this research may have, Dr. McLaughlin is hopeful the results will inspire further inquiry. " We have observed a broad signa l from genetic ana lyses of both diseases but do not yet have an indication of whether this can be exploited in patient treatment," he says. "However, this should defi nitely be an avenue of research that is aggressively pursued in molecular cell biology and pharmaceutical research." In addition, case-control studies have suggested potentia l overlaps between ALS and bipolar disorder, autism and depres- sion. W hile the current research failed to confi rm fi ndings observed in the case-control studies, Dr. McLaughlin believes f uture studies with la rger patient pools could y ield more defi nitive conclusions. Regardless of whether subsequent research confi rms such links, the genetic correlation between ALS and schizophrenia is enough to va lidate the fact that the disciplines of neurol- og y and psychiatry should be studied together, according to Dr. McLaughlin. Link between ALS, Schizophrenia 1 2C L I N I C A L F E A T U R E

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