Mitochondrial frataxin functions in iron homeostasis, biogenesis of iron-sulfur clusters, protection from oxidative stress and apoptosis, and as a tumor suppressor protein. We examined regulation of the expression of the human frataxin by p53. Pifithrin-α, an inhibitor of p53 function, and knockdown of p53 decreased the level of frataxin mRNA in human kidney HEK 293T cells.
Scientific News
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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.
p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron
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Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes
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- Category: Scientific News
BACKGROUND:
Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech.
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes
Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content
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BACKGROUND:
In Friedreich's ataxia (FA) the genetically decreased expression of the mitochondrial protein frataxin leads to disturbance of the mitochondrial iron metabolism. Within the cerebellum the dentate nuclei (DN) are primarily affected. Histopathological studies show atrophy and accumulation of mitochondrial iron in DN.
Read More: Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content
Open-label pilot study of interferon gamma-1b in Friedreich ataxia
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- Category: Scientific News
OBJECTIVES/AIMS:
This is an open-label trial of the safety of interferon gamma-1b (IFN-γ) and its effect on frataxin levels and neurologic measures in 12 children with Friedreich ataxia.
MATERIALS AND METHODS:
Interferon gamma-1b was administered via subcutaneous injection three times weekly. The dose increased from 10 to 50 mcg/m2 during the first four weeks and then remained at 50 mcg/m2
Read More: Open-label pilot study of interferon gamma-1b in Friedreich ataxia
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models
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Friedreich ataxia (FRDA) is a genetic disease due to increased repeats of the GAA trinucleotide in intron 1 of the frataxin gene. This mutation leads to a reduced expression of frataxin. We have produced an adeno-associated virus (AAV)9 coding for human frataxin (AAV9-hFXN). This AAV was delivered by intraperitoneal (IP) injection to young conditionally knockout mice in which the frataxin gene had been knocked-out in some tissues during embryogenesis by breeding them with mice expressing the Cre recombinase gene under the muscle creatine kinase (MCK) or the neuron-specific enolase (NSE) promoter.
- Probing the Kinetic Stabilities of Friedreich's Ataxia Clinical Variants Using a Solid Phase GroEL Chaperonin Capture Platform
- Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia
- Nasality in Friedreich ataxia
- Overlapping Binding Sites of the Frataxin Homologue Assembly Factor
- A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia