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Bold claim of MS gene discovery comes under withering attack

In MS, neurons lose their myelin coating and no longer transmit signals

Scientists are forcefully challenging a recent study that claimed to identify a rare genetic mutation that sharply boosted the risk of multiple sclerosis. The critics cite calculation errors and say they have been unable to replicate the findings — and question why the original paper was ever published in a top journal.

The withering assault has dashed hopes that the study might quickly lead to new drugs for MS and also raised questions about how such critiques are handled: like more and more journals, the one that published the paper does not run letters to the editor, making it harder for scientists to see that the claim has been hotly disputed.

As soon as the MS claim was published in June, outside scientists expressed doubts to STAT that there was really a link between the newly discovered mutation and the disease. Since then, other experts have dug into the study in greater detail, tried to replicate its findings using a database of thousands of MS patients, and checked the original paper’s statistics. In each case they concluded there is no link between the rare mutation and MS.

The study — which reported that the mutation raised the risk of MS by a whopping 70 percent — was led by Carles Vilariño-Güell of the University of British Columbia and published in the respected journal Neuron. It fingered a gene called NR1H3, finding that a rare mutation silences other genes involved in regulating inflammation or other aspects of immunity. As a result, inflammation runs wild, and the immune system destroys the protective myelin sheath on neurons, crippling their ability to carry signals needed for movement and other functions.

The purported mutation-MS link led to hopes that correcting the mutation or its downstream consequences might treat or even cure MS, which affects some 2.3 million people worldwide.

Within days, experts on MS and genetics began scrutinizing the claim.

Daniel Weeks, a professor of human genetics and biostatistics at the University of Pittsburgh, said an “extremely straightforward” analysis showed that some crucial statistical calculations in the paper were wrong. Doing them correctly “dramatically changes the strength of their claim,” he told STAT. “It’s no longer statistically significant.” That is, the association between the mutation and MS had a good likelihood of being due to chance.

Chris Cotsapas of Yale University and the Broad Institute, who studies the genetics of immune-related diseases such as MS, went further, looked for the mutation reported in the Neuron study but in different MS patients and healthy controls. Using a database maintained by the International MS Genetics Consortium, which holds information on 13 times more people than Vilariño-Güell studied, Cotsapas identified 31 people who have the mutation and also MS (out of a total sample of 32,852 MS patients in the database) and 31 who have the mutation but not the disease (out of 36,538). That is, the mutation was hardly more common in MS patients than healthy people.

Story Source: The above story is based on materials provided by STATNEWS
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