Surgery News

Research findings highlight the vital need for better secondary stroke prevention

April 09, 2016

FTLD cases that are characterized by TDP-43 inclusions can be passed from one generation to the next, as a result of mutations in another protein called progranulin (GRN). Using post-mortem brain tissue from 515 patients with TDP-associated FTLD, the team found that these patients had multiple genetic variations called SNPs in common in a region on chromosome 7 containing the protein TMEM106B, compared to over 2,500 disease-free controls. From this, the team concluded that the TMEM106B gene variants confer a higher genetic risk for all FTLD-TDP patients, as well as in the subset of patients with GRN mutations. What's more, alterations in levels of TMEM106B protein in the brain may be directly or indirectly involved in causing FTLD.

How TDP-43, GRN, and TMEM106B proteins might normally interact in brain cells and be disrupted in FTLD remains to be deciphered. Nevertheless, the discovery of TMEM106B is an important step toward a better understanding of FTLD. The team plans to sequence the TMEM106B segment of chromosome 7, and in parallel, study the normal functions of TMEM106B.

SOURCE University of Pennsylvania School of Medicine