Abstract
Genetic studies uncover a mutation in a widely conserved protein as the cause of a neurological disorder in two brothers.
Highlights
Related research article Kim M, Sandford E, Gatica D, Qui Y, Liu X, Zheng Y, Schulman B, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takaat S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. 2016
ATG5 was first identified in yeast as a protein that is involved in a process called autophagy that breaks down materials within cells so that they can be recycled (Tsukada and Ohsumi, 1993; Mizushima et al, 1998)
It is perhaps not a surprise after all that a mutation that affects ATG5 might be behind childhood ataxia
Summary
Related research article Kim M, Sandford E, Gatica D, Qui Y, Liu X, Zheng Y, Schulman B, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takaat S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. 2016. This discovery suggested that the loss of movement control observed in the brothers (which is more formally called ataxia) might be due to a recessive genetic mutation. They looked for a mutation within this region that was found in the ataxic brothers but not the general Turkish population, in the hope of finding the cause of the disease.
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