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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.


In vivo imaging of pyrrole-imidazole polyamides with positron emission tomography

The biodistribution profiles in mice of two pyrrole-imidazole polyamides were determined by PET. Pyrrole-imidazole polyamides are a class of small molecules that can be programmed to bind a broad repertoire of DNA sequences, disrupt transcription factor-DNA interfaces, and modulate gene expression pathways in cell culture experiments. The 18F-radiolabeled polyamides were prepared by oxime ligation between 4-[18F]-fluorobenzaldehyde and a hydroxylamine moiety at the polyamide C terminus.

Read More: In vivo imaging of pyrrole-imidazole polyamides with positron emission tomography

The in vivo mitochondrial two-step maturation of human frataxin

Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy. Although the exact function of frataxin is still a matter of debate, it is widely accepted that frataxin is a mitochondrial iron chaperone involved in iron-sulfur cluster and heme biosynthesis. Frataxin is synthesized as a precursor polypeptide, directed to the mitochondrial matrix where it is proteolytically cleaved by the mitochondrial processing peptidase to the mature form via a processing intermediate.

Read More: The in vivo mitochondrial two-step maturation of human frataxin

The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood

BACKGROUND:
Clinical heart disease was recognized in the first descriptions of Friedreich's ataxia (FA). Cardiac manifestations reported for this progressive neurologic disease include hypertrophic cardiomyopathy, dilated cardiomyopathy, and electrophysiologic disturbances. Longitudinal data for childhood cases are limited. This study aimed to define the longitudinal course of the cardiac abnormalities with FA diagnosed during childhood and to correlate the presence of cardiomyopathy with clinical and genetic factors.

METHODS:
A retrospective chart review was conducted, with prospective, blinded interpretation of echocardiograms and electrocardiograms. All the patients with a diagnosis of FA referred to the cardiology department of a single institution from 1974 to 2004 were included in the study.

Read More: The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich’s ataxia patients

Background:
The most frequent mutation of Friedreich’s ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It’s known that the length of GAA is directly correlated with disease severity. The effect of mutation is a severe reduction of mRNA. Recently, a link among aberrant CpG methylation, chromatin organization and GAA repeat was proposed.

Methods:
In this study, using pyrosequencing technology, we have performed a quantitative analysis of the methylation status of 5 CpG sites located within the region upstream of GAA repeat, in 67 FRDA patients.

Read More: DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich’s ataxia patients

Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features

To assess the utility of urinary isoprostanes as markers of oxidative injury in Friedreich ataxia (FA), we compared levels of urinary F(2)-isoprostanes in patients with FA and healthy control subjects. Levels of urinary F(2)-isoprostanes in FA patients were not different from controls and were not significantly associated with age, GAA repeat length, disability level, or the use of antioxidants. Thus, urinary F(2)-isoprostanes are not a useful biomarker in FA.

(c) 2008 Movement Disorder Society.

Page 178 of 189

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