Marta Figueiredo, PhD, science writer —

Marta holds a biology degree, a master’s in evolutionary and developmental biology, and a PhD in biomedical sciences from the University of Lisbon, Portugal. She was awarded a research scholarship and a PhD scholarship, and her research focused on the role of several signaling pathways in thymus and parathyroid glands embryonic development. She also previously worked as an assistant professor of an annual one-week embryology course at the University of Lisbon’s Faculty of Medicine.

Articles by Marta Figueiredo

Study: Mitochondrial Fragmentation May Be Therapeutic Target in CMT2B

Rab7A, the faulty enzyme behind Charcot-Marie-Tooth disease type 2B (CMT2B), regulates the structure and movement of mitochondria, the cells’ powerhouses, according to a new study in patient-derived and mouse cells carrying a CMT2B-causing mutation. Also, the mutated Rab7A enzyme was found to promote mitochondrial fragmentation — the breakup of…

Exercise-induced Irisin Hormone May Be Muscle Loss Biomarker

Blood levels of irisin, an exercise-induced muscle hormone, are significantly lower in people with Charcot-Marie-Tooth disease (CMT) and associate with muscle strength and quality, a small study shows. The findings suggest that this protein, previously shown to have protective effects against muscle wasting, may be a useful biomarker to…

MicroRNA-based Gene Therapy for CMT1A Shows Promise in Mice

A gene therapy designed to reduce the levels of PMP22 — the protein overly produced in Charcot-Marie-Tooth disease type 1A (CMT1A) — significantly lessened functional deficits in a mouse model of the disease, a study shows. The approach, based on an artificial microRNA (miRNA) molecule, was found to significantly…

Rare POLR3B Mutation Again Linked to Early-onset CMT Type 1

In rare cases, de novo or non-inherited mutations in one copy of the POLR3B gene can cause an early-onset demyelinating form of Charcot-Marie-Tooth disease (CMT), according to a study from Japan involving more than 800 CMT patients. While mutations in both POLR3B gene copies have been shown to cause a rare neurodevelopmental…

Orthopedic Shoes Can Improve Walking, But Not Stability, in Patients

Compared to regular footwear, customized orthopedic shoes significantly improve walking, including speed, in adults with Charcot-Marie-Tooth (CMT) disease, according to a small study in the Netherlands. However, no significant differences in postural stability while standing or walking were noted when patients wore orthopedic versus standard shoes. While orthopedic…

Managing Depression, Fatigue May Boost Quality of Life

People with Charcot-Marie-Tooth disease type 1A (CMT1A) have reduced quality of life, particularly in physical domains, a study from Serbia shows. Disease severity, depression, and fatigue are the main predictors of worse quality of life in this patient population. Given that there is still no treatment for this disease, managing…