Our hearing is amongst our most profound senses, connecting us to the surrounding world through sound. However, this connection is diminished or absent altogether in millions of people around the world because of hearing loss. Hearing loss is a common sensory disorder and is often hereditary. The condition can be caused by complex genetic factors, and so far, researchers have linked over 150 genes to hearing impairment. Now, a new collaborative study led by Dr. Qiang Wang of the South China University of Technology, Dr. Tao Cai from the National Institute of Health, and Dr. Yuan Li from the China-Japan Friendship Hospital in Beijing, has uncovered a new genetic clue, a mutation in the OXR1 gene, that could upend our understanding of hereditary hearing loss, and the eventual treatments that we develop to combat it.

Aging is a tale written by the cells in our bodies, although some cell types play a bigger role than others. At the crux of this story is an intriguing protagonist: the stem cell. These master builders, which can differentiate into any cell type, thereby helping to replace diseased or worn-out tissues, are essential for tissue repair and in maintaining health into old age. But as we get older, the capabilities of stem cells gradually diminish, which is known as stem cell exhaustion and is a key facet of aging itself. Stem cell exhaustion plays a role in a large number of age-related diseases, meaning that it could be a crucial research target in developing new treatments and techniques to help us age well. A Research Topic in the open-access journal Frontiers in Aging has been curated by Dr. Sarallah Rezazadeh of the Icahn School of Medicine at Mount Sinai and Professor Georgina May Ellison-Hughes of King’s College London. The Topic collects groundbreaking studies into stem cell exhaustion under one open-access roof, exploring the detailed mechanisms underlying the phenomenon and establishing the field in a wider context to identify promising therapeutic approaches for those later in life.

Researchers have made a significant advancement in understanding an important component of the nervous system: the neuromuscular junction, a crucial connection between nerves and muscles. A recent study performed by Charles Frison-Roche of the Center of Research in Myology in the Sorbonne University, Paris, and colleagues, reveals the role of proteins known as Muscleblind-like proteins, or MBNL proteins for short, which help to regulate motor coordination by helping to maintain neuromuscular junction stability. This discovery is potentially very useful, as loss-of-function of MBNL proteins is a hallmark of a genetic condition called Myotonic Dystrophy type 1 (or DM1 for short). DM1 disrupts muscle control, leading to muscle weakness, problems with balance, and other symptoms that can get progressively worse over time. MBNL proteins, and their role in the neuromuscular junction, may represent new treatment targets in DM1.