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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.


Progressive GAA·TTC Repeat Expansion in Human Cell Lines

Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA·TTC repeat expansion in the first intron of the FXN gene. The expanded repeat reduces FXN mRNA expression and the length of the repeat tract is proportional to disease severity. Somatic expansion of the GAA·TTC repeat sequence in disease-relevant tissues is thought to contribute to the progression of disease severity during patient aging.

Read More: Progressive GAA·TTC Repeat Expansion in Human Cell Lines

Auditory Perception in Individuals with Friedreich's Ataxia

Introduction: Friedreich’s ataxia (FRDA) is an inherited ataxia with a range of progressive features including axonal degeneration of sensory nerves. The aim of this study was to investigate auditory perception in affected individuals. Methods: Fourteen subjects with genetically defined FRDA participated. Two control groups, one consisting of healthy, normally hearing individuals and another comprised of subjects with sensorineural hearing loss, were also assessed. Auditory processing was evaluated using structured tasks designed to reveal the listeners’ ability to perceive temporal and spectral cues. Findings were then correlated with open-set speech understanding.

Read More: Auditory Perception in Individuals with Friedreich's Ataxia

Frataxin interacts with Isu1 through a conserved tryptophan in its ß-sheet

Friedreich's ataxia is a neurodegenerative disease caused by the low expression of frataxin, a mitochondrial iron-binding protein which plays an important, but non-essential, role in the formation of iron–sulfur (Fe/S) clusters. It has been shown that Yfh1, the yeast frataxin homologue, interacts functionally and physically with Isu1, the scaffold protein on which the Fe/S clusters are assembled. The large β-sheet platform of frataxin is a good ligand candidate for this interaction. We have generated 12 yeast mutants in conserved residues of the β-sheet protruding at the surface or buried in the protein core.

Read More: Frataxin interacts with Isu1 through a conserved tryptophan in its ß-sheet

Subclinical Myocardial Ischemia Without LV Hypertrophy in Friedreich's Ataxia

Background:

Heart failure mortality is high in patients with Friedreich’s Ataxia (FA), a genetic disorder resulting in iron accumulation within cardiomyocyte mitochondria. Due to limited mobility, cardiomyopathy in FA patients may not be detected until myocardial disease is advanced. We hypothesized that abnormal myocardial perfusion represents an early manifestation of cardiomyopathy, and can be detected with vasodilator stress cardiac magnetic resonance (CMR).

Read More: Subclinical Myocardial Ischemia Without LV Hypertrophy in Friedreich's Ataxia

The N-terminus of mature human frataxin is intrinsically unfolded

Frataxin is a highly conserved nuclear-encoded mitochondrial protein whose deficiency is the primary cause of Friedreich's ataxia, an autosomal recessive neurodegenerative disease. The frataxin structure comprises a well-characterized globular domain that is present in all species and is preceded in eukaryotes by a non-conserved N-terminal tail that contains the mitochondrial import signal.

Read More: The N-terminus of mature human frataxin is intrinsically unfolded

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