Afrontamiento familiar ante el diagnóstico y evolución de la enfermedad ataxia de Friedreich, «Family dealing with the diagnosis and evolution of Friedreich’s ataxia disease»

Erika E. López Rios, Yeisy C., Guarate Coronado; Ocronos. Vol. III. Nº 8– Diciembre 2020. Pág. Inicial: Vol. III; nº8:12; ORCID iD: http://orcid.org/ 0000-0003-1526-4693

A partir del diagnóstico y evolución de la Ataxia de Friedreich los familiares experimentaron sentimientos negativos, surgieron cambios a nivel económico, familiar, social y calidad de vida, además el cuidado resulta difícil, por lo que el cuidador principal presentó sobrecarga. Sin embargo, la familia ha logrado afrontar positivamente utilizando estrategias enfocadas al problema y emociones. Conclusiones: La familia utilizó estrategias de afrontamiento enfocadas en las emociones y centradas en el problema, pues emplearon el autocontrol emocional, aceptación de responsabilidades, reevaluación positiva, apoyo familiar y espiritual, búsqueda de información sobre la enfermedad y alternativas de tratamiento.

Ferroptosis: molecular mechanisms and health implications

Daolin Tang, Xin Chen, Rui Kang, Guido Kroemer; Cell Res (2020). doi:10.1038/s41422-020-00441-1

The ferroptosis inhibitor SRS11-92 is highly effective in protecting human primary fibroblasts from cell death induced by frataxin depletion, indicating that targeting ferroptosis might be useful for the treatment of Friedreich ataxia, pending confirmation in animal models.

Altered Expression of Mitoferrin and Frataxin, Larger Labile Iron Pool and Greater Mitochondrial DNA Damage in the Skeletal Muscle of Older Adults

Picca, A.; Saini, S.K.; Mankowski, R.T.; Kamenov, G.; Anton, S.D.; Manini, T.M.; Buford, T.W.; Wohlgemuth, S.E.; Xiao, R.; Calvani, R.; Coelho-Júnior, H.J.; Landi, F.; Bernabei, R.; Hood, D.A.; Marzetti, E.; Leeuwenburgh, C; Cells 2020, 9, 2579. doi:10.3390/cells9122579

An inverse association was found between total Fe and the heavier Fe isotope (56Fe), indicating an increase in labile Fe abundance in cells with greater Fe content. The highest levels of labile Fe were detected in old participants with a Short Physical Performance Battery (SPPB) score ≤ 7 (low-functioning, LF). Protein levels of mitoferrin and frataxin were, respectively, higher and lower in the LF group relative to young participants and older adults with SPPB scores ≥ 11 (high-functioning, HF). The mtDNA4977 relative abundance was greater in old than in young participants, regardless of SPPB category. Higher protein levels of Pink1 were detected in LF participants compared with young and HF groups. Finally, the ratio between lipidated and non-lipidated microtubule-associated protein 1A/1B-light chain 3 (i.e., LC3B II/I), as well as p62 protein expression was lower in old participants regardless of SPPB scores. Our findings indicate that cellular and mitochondrial Fe homeostasis is perturbed in the aged muscle (especially in LF older adults), as reflected by altered levels of mitoferrin and frataxin, which, together with MQC derangements, might contribute to loss of mtDNA stability.