Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis

Pazos-Gil M, Medina-Carbonero M, Sanz-Alcázar A, Portillo-Carrasquer M, Oliveira-Jorge L, Hernández G, Sánchez M, Delaspre F, Cabiscol E, Ros J, Tamarit J. Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis. iScience. 2026 Jan 5;29(2):114625. doi: 10.1016/j.isci.2025.114625. PMID: 41623463; PMCID: PMC12857413.

In this study, we have analyzed iron homeostasis in a mouse model presenting pathological frataxin deficiency (FXNI151F). Our results reveal tissue-specific alterations of iron regulatory proteins (IRPs).

Friedreich-Ataxie: Die häufigste autosomal-rezessiv vererbte Ataxie [Friedreich's ataxia: The most common autosomal recessive inherited ataxia]

Erdlenbruch F. Friedreich-Ataxie: Die häufigste autosomal-rezessiv vererbte Ataxie [Friedreich's ataxia: The most common autosomal recessive inherited ataxia]. MMW Fortschr Med. 2026 Feb;168(Suppl 1):40-42. German. doi: 10.1007/s15006-026-5619-2. PMID: 41699226.

Die Friedreich-Ataxie ist eine seltene, autosomal-rezessiv vererbte, (neuro)degenerative Multisystemerkrankung. Neben dem Nervensystem sind auch das Herz, der Bewegungsapparat und der Stoffwechsel beeinträchtigt. Die Krankheit bricht i. d. R. im Jugendalter aus. …

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report

Mehrban A, Babamahmoodi A, Hamidian MT, Amiri B, Ramzani P, Karimi M. Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report. Clin Case Rep. 2026 Feb 24;14(3):e72153. doi: 10.1002/ccr3.72153. PMID: 41756699; PMCID: PMC12932118.

Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA.

Therapeutic Potential of Deferiprone-Resveratrol Hybrid (DFP-RVT) Against Hepatic Iron Overload in β-Thalassemia Mice: A Proteomic Analysis

Maneekesorn S, Yingchutrakul Y, Simanon N, Kumsab J, Butkinaree C, Moonmuang S, Li J, Charoenkwan P, Koonyosying P, Paradee N, Srichairatanakool S, Chuljerm H. Therapeutic Potential of Deferiprone-Resveratrol Hybrid (DFP-RVT) Against Hepatic Iron Overload in β-Thalassemia Mice: A Proteomic Analysis. Biomolecules. 2026 Feb 23;16(2):338. doi: 10.3390/biom16020338. PMID: 41750406; PMCID: PMC12937802. 

Proteomic analysis was performed on liver tissues from baseline control, iron-overloaded, and DFP-RVT-treated mice to identify differentially expressed proteins and affected pathways. Iron overload resulted in marked downregulation of mitochondrial proteins, particularly components of oxidative phosphorylation and iron-sulfur cluster-associated pathways, including frataxin.

Our findings suggest that frataxin may be a key determinant of mitochondrial integrity and function in the context of hepatic iron overload. The observed frataxin loss in IO mice, likely driven by iron toxicity, contributes to hepatocellular damage. Importantly, DFP-RVT treatment restored frataxin expression, which may account for the recovery of mitochondrial protein levels and overall mitochondrial function

Dimethyl fumarate and mitochondrial physiology: implications for neurological disorders

de Oliveira MR. Dimethyl fumarate and mitochondrial physiology: implications for neurological disorders. Front Pharmacol. 2026 Feb 12;17:1748360. doi: 10.3389/fphar.2026.1748360. PMID: 41769702; PMCID: PMC12935978.

In conclusion, DMF exerts multifaceted and cell type-specific actions on mitochondria. Understanding these mechanisms may guide optimized therapeutic strategies and the identification of biomarkers for precision use in neurological disorders.

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Fleszar Z, Thomas-Black G, Garcia-Moreno H, Cook A, Giunti P. An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK. Mov Disord Clin Pract. 2026 Mar 6. doi: 10.1002/mdc3.70529. Epub ahead of print. PMID: 41789678. 

Given the established benefits for bone health, particularly in a cohort in which falls are highly prevalent, coupled with the low cost and good safety profile of supplementation, we recommend that vitamin D deficiency should be screened for and actively managed in all FRDA patients.

Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning

Pontillo G, Penna S, Arrigoni F, Bender B, Boesch S, Brunetti A, Cendes F, Chopra S, Corben LA, Deistung A, Delatycki MB, Diciotti S, Dogan I, Egan GF, França MC Jr, Georgiou-Karistianis N, Göricke SL, Henry PG, Hernandez-Castillo CR, Hutter D, Joers JM, Lenglet C, Lindig T, Lodi R, Manners DN, Martinez ARM, Martinuzzi A, Marzi C, Mascalchi M, Nachbauer W, Pane C, Peruzzo D, Pishardy PK, Reetz K, Rezende TJR, Romanzetti S, Saccà F, Schoels L, Schulz JB, Stefani A, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Tonon C, Vavla M, Harding IH, Cocozza S. Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning. Radiology. 2026 Mar;318(3):e251386. doi: 10.1148/radiol.251386. PMID: 41805414. 

Using the SuStaIn algorithm, three distinct structural MRI-based subtypes of FRDA were identified, with different patterns of brain degeneration and associations with clinical severity

22463 - MEJORÍA EN ESCALAS CLÍNICAS DE ATAXIA DE FRIEDREICH EN TRATAMIENTO CON OMAVELOXOLONA: A PROPÓSITO DE UN CASO

N. Rodríguez Albacete, A. Horga Hernández, A. Guerrero Sola, L. Galán Dávila,, 22463 - MEJORÍA EN ESCALAS CLÍNICAS DE ATAXIA DE FRIEDREICH EN TRATAMIENTO CON OMAVELOXOLONA: A PROPÓSITO DE UN CASO, Neurology Perspectives, Volume 5, Supplement 1, 2025, 111558, ISSN 2667-0496, doi:10.1016/S2667-0496(26)00777-5. 

En este caso, omaveloxolona se asoció a una mejoría clínica en escalas estandarizadas en una paciente con AF. Estos hallazgos contribuyen a incrementar la experiencia en práctica clínica real con este fármaco, aunque se requerirán mayor número de pacientes y seguimiento a largo plazo para confirmar estos resultados.

22211 - ANÁLISIS DE BIOMARCADORES PREDICTORES DE LA PROGRESIÓN EN LA ATAXIA DE FRIEDREICH (FRDA)

L. Manrique Arregui, F. Martínez Dubarbie, A. Pelayo Negro, N. Benítez Calle, M. Sánchez Peláez, D. Cota González, R. Martínez Díaz, I. Sánchez, A. Matilla, J. Infante Ceberio,, 22211 - ANÁLISIS DE BIOMARCADORES PREDICTORES DE LA PROGRESIÓN EN LA ATAXIA DE FRIEDREICH (FRDA), Neurology Perspectives, Volume 5, Supplement 1, 2025, 110789,ISSN 2667-0496, doi:10.1016/S2667-0496(26)00008-6.

Los pa4cientes con FDRA presentan mayores niveles de NfL en LCR y menor expresión de FXN. Aunque GAA1, DB y FXN se asociaron con la gravedad del fenotipo, GAA1 y SARA basal fueron los principales factores de progresión. Los NfL en LCR no se asociaron con la gravedad ni con la progresión clínica.

P602: FXN repeat-primed PCR and long-read sequencing reveal non-canonical repeat expansions,

P602: FXN repeat-primed PCR and long-read sequencing reveal non-canonical repeat expansions, Obadia, Benjamin et al. Genetics in Medicine Open, Volume 4, 104093; DOI: 10.1016/j.gimo.2026.104093 

This study validated the CE-based assay as an efficient and accurate screening method for detecting repeat expansions in FXN. PacBio sequencing revealed that GAA interruptions were present primarily in alleles below 200 repeats in our cohort. Identifying these interruptions may have significant clinical relevance; however, additional larger scale studies and an interpretation paradigm will be needed prior to incorporating interruption data into routine testing.