A new Genomic Press Interview with Professor David Rubinsztein explores his groundbreaking discovery that autophagy clears toxic proteins in neurodegenerative diseases. The Cambridge scientist discusses his transformation from South African medical student to world-renowned researcher with over 134,000 citations. His work has opened unprecedented therapeutic avenues for millions affected by Huntington's, Parkinson's, and Alzheimer's diseases.

Salk Institute researchers surveyed human embryonic kidney cells and skin biopsy-derived fibroblasts from Alzheimer’s patients to identify proteins involved in regulating mitochondrial stress—a hallmark of aging. The newly identified proteins could one day serve as biomarkers to screen for in skin biopsies, simplifying diagnosis and assessment of Alzheimer’s disease.

To study early-life changes in fAD brain cells, researchers including Zhen-Ge Luo and colleagues from ShanghaiTech University, China, have leveraged stem cell-derived brain organoids, to model aspects of early human brain development and function in the laboratory. Their work was published today in Stem Cell Reports.  Organoids derived from fAD patients recapitulated AD-specific features such as increased amyloid protein, contained less mature neurons, and had higher cell death rates than healthy organoids. fAD organoids also had distinct changes in gene expression. One of the genes of note is TMSB4X which makes an anti-inflammatory protein called Thymosin β4 (Τβ4). Interestingly, like in the brain organoids, TMSB4X expression was also reduced in neurons of post-mortem AD patients brain samples.