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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia

This magnetoencephalography (MEG) study addresses (i) how Friedreich ataxia (FRDA) affects the sub-second dynamics of resting-state brain networks, (ii) the main determinants of their dynamic alterations, and (iii) how these alterations are linked with FRDA-related changes in resting-state functional brain connectivity (rsFC) over long timescales. For that purpose, 5 min of resting-state MEG activity were recorded in 16 FRDA patients (mean age: 27 years, range: 12-51 years; 10 females) and matched healthy subjects. Transient brain network dynamics was assessed using hidden Markov modeling (HMM). Post hoc median-split, nonparametric permutations and Spearman rank correlations were used for statistics. In FRDA patients, a positive correlation was found between the age of symptoms onset (ASO) and the temporal dynamics of two HMM states involving the posterior default mode network (DMN) and the temporo-parietal junctions (TPJ). FRDA patients with an ASO 11 years or healthy subjects. The temporal dynamics of the DMN state also correlated with minute-long DMN rsFC. This study demonstrates that ASO is the main determinant of alterations in the sub-second dynamics of posterior associative neocortices in FRDA patients and substantiates a direct link between sub-second network activity and functional brain integration over long timescales.

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Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis

No comprehensive meta-analysis has ever been performed to assess the value of neurofilament light chain (NfL) as a biomarker in genetic ataxia. This study is a meta-analysis to summarize NfL concentration and evaluate its utility as a biomarker in genetic ataxia. Studies were included if they reported NfL concentration of genetic ataxia. The authors used log (mean ± SD) NfL to describe mean raw value of NfL. The effect size of NfL between genetic ataxia and healthy controls (HC) was expressed by mean difference. Correlation between NfL and disease severity was calculated. 11 studies of 624 HC and 1006 patients were identified, here referred to as spinocerebellar ataxia (SCA1, 2, 3, 6, and 7), Friedreich ataxia (FRDA), and ataxia telangiectasia (A-T). The concentration of blood NfL (bNfL) elevated with proximity to expected onset, and progressively increased from asymptomatic to preclinical to clinical stage in SCA3. Compared with HC, bNfL levels were significantly higher in SCA1, 2, 3, and 7, FRDA, as well as A-T, and the difference increased with the advancing disease in SCA3. bNfL levels correlated with disease severity in SCA3. There was a significant correlation between bNfL and longitudinal progression in SCA3. Additionally, bNfL increased with age in HC, yet this is probably masked by higher disease-related effects on bNfL in genetic ataxia. bNfL can be used as a potential biomarker to predict disease onset, severity, and progression of genetic ataxia. Reference-value setting of bNfL should be divided according to age.

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Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. This study reports plasma idebenone values in a cohort of Friedreich's ataxia (FRDA) patients during a long-term follow-up. Taking advantage of this, cardiological and neurological status were also assessed together with idebenone values and genetic background. A long-term follow-up retrospective study in 27 FRDA patients with a disease onset at the pediatric age treated with idebenone by compassionate use is reported. Plasma idebenone was measured by HPLC with electrochemical detection. Median plasma idebenone values increased when doses were increased, but apparently linearity was lost in the highest dose group. Marked intraindividual and interindividual differences were observed among patients. We did not find a consistent positive effect after analysis of paired data at the beginning and the end of the study. We only found a correlation between some cardiological measures and the duration of idebenone therapy at high doses, but with uncertain significance. The large variations observed among the different individuals involved in this study should be considered for optimization of individual dosage regimens.

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A mitochondrial membrane-bridging machinery mediates signal transduction of intramitochondrial oxidation

Mitochondria are the main site for generating reactive oxygen species, which are key players in diverse biological processes. However, the molecular pathways of redox signal transduction from the matrix to the cytosol are poorly defined. Here we report an inside-out redox signal of mitochondria. Cysteine oxidation of MIC60, an inner mitochondrial membrane protein, triggers the formation of disulfide bonds and the physical association of MIC60 with Miro, an outer mitochondrial membrane protein. The oxidative structural change of this membrane-crossing complex ultimately elicits cellular responses that delay mitophagy, impair cellular respiration and cause oxidative stress. Blocking the MIC60-Miro interaction or reducing either protein, genetically or pharmacologically, extends lifespan and health-span of healthy fruit flies, and benefits multiple models of Parkinson's disease and Friedreich's ataxia. This discovery provides a molecular basis for common treatment strategies against oxidative stress.

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LEXEO Therapeutics Closes $100 Million Series B Financing

Financing led by D1 Capital Partners and Eventide Asset Management with participation from additional investors including returning Series A investors

Proceeds to support continued preclinical pipeline development in rare cardiovascular diseases and the genetics of Alzheimer’s disease; clinical development of the company’s lead programs toward meaningful data catalysts

NEW YORK – Sept. 9, 2021 (GLOBE NEWSWIRE) – LEXEO Therapeutics, a fully integrated clinical-stage gene therapy company advancing adeno-associated virus (AAV)-mediated treatments for genetic conditions, today announced that it closed a $100 million Series B financing, led by D1 Capital Partners and Eventide Asset Management, and joined by CAM Capital, Verition Fund Management, Laurion Capital Management, Gray’s Creek Capital Partners, and existing investors Longitude Capital, Omega Funds, Lundbeckfonden Ventures, PBM Capital, Janus Henderson Investors, Woodline Partners LP, Invus Capital, and Alexandria Venture Investments.

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