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Anaplerotic Therapy of Huntington Disease and Other Polyglutamine Diseases

a polyglutamine disease and anaphylaxis technology, applied in the field of treatment and the prevention of huntington disease and other polyglutamine diseases, can solve the problems of elusive effectiveness of pharmacotherapy for neurodegenerative diseases associated with impaired energy metabolism, especially polyglutamine diseases, and achieve the effects of treating and/or and preventing a polyglutamine diseas

Inactive Publication Date: 2012-06-28
INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, to date, effective pharmacotherapy for neurodegenerative diseases associated with impaired energy metabolism like polyglutamine diseases in particular, remains rather elusive.

Method used

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  • Anaplerotic Therapy of Huntington Disease and Other Polyglutamine Diseases
  • Anaplerotic Therapy of Huntington Disease and Other Polyglutamine Diseases
  • Anaplerotic Therapy of Huntington Disease and Other Polyglutamine Diseases

Examples

Experimental program
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Effect test

example 1

[0036]Identification of a plasma biomarker in premanifest carriers of Huntington disease indicating early energy imbalance

[0037]Abbreviations: HD (Huntington disease), UHDRS (Unified Huntington disease rating scale), ppm (parts per million); PCA (principal components analysis), PLS (partial least square).

[0038]Abstract

[0039]Huntington disease (HD) is an autosomal dominant neurodegenerative disorder in which an energy deficiency is thought to play a role. Patients consistently lose weight, although the reason for this is unknown. In view of the specific access to premanifest carriers in HD, we performed a multiparametric study in a group of 32 individuals with no sign or little of the disease compared to 21 controls. Weight loss was observed even in premanifest carriers in the HD group, although their caloric intake was higher. Inflammatory processes were ruled out, as well as primary hormonal dysfunction, including ghrelin and leptin balance. Proton nuclear magnetic resonance spectr...

example 2

[0106]Triheptanoin Therapy of HD Mouse Models

[0107]Aims of the Study

[0108]A pilot study is conducted to test the effect of dietary triheptanoin therapy versus control diet on selected strains of HD R6 / 2 mice (Mangariani 1996, Cell 87: 493-506, Kosinski 1999, Neuroreport 10: 3891-6). The study includes (i) measuring rates of cerebral anaplerosis from heptanoate and brain ATP in R6 / 2 mice of different ages and in control mice in order to demonstrate the .ability of triheptanoin metabolites to cross the blood brain barrier of R6 / 2 mice and to reverse central energy deficit; (ii) assessing the therapeutic efficacy of triheptanoin by accurate behavioral testing, in vivo brain microdialysis (to assay neurotransmitters, triheptanoin metabolites, and BCAA) and neuropathological examination (iii) metabolornic analyses on mouse plasma and urine.

[0109]Research Methods

[0110]R6 / 2 and control mice, on triheptanoin-enriched and control diets, are infused sequentially—at 4, 8 and 12 weeks—with vari...

example 3

[0112]Therapy of Spinocerebellar Ataxia 7 (SCA7)

[0113]1 / In vitro Trial

[0114]To create a simplified model of SCA7 in vitro we used primary cultures of dissociated cerebellar cells because lesion of the cerebellum, particularly the Purkinje cell (PC) layer, accounts for the ataxia phenotype in patients with SCA7. Our cerebellar cell cultures were composed of glial cells and neurons, 5 to 10% of which expressed calbindin (CaBP) identifying them as PC. To examine the effects of mutant. ATXNT7 on PC survival, the cells were infected at DIV1 (1st Day In Vitro) with lentiviral vectors carrying truncated forms of normal and mutant ataxia 7 (ATXN7T: amino acids 1-232) fused to GUT (ATXN7T-10Q-GFP, ATXN7T-100Q-GFP). These lentiviral vectors allowed efficient expression of these proteins in about 90% of neurons, including Purkinje cells. Infection by ATXN7T-I 00Q-GFP led to massive neuronal loss, almost exclusively in Purkinje neurons (−85% of Purkinje cell death versus ˜20% loss of other neur...

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Abstract

The present invention relates to a method for treating and / or preventing Huntington disease and other polyglutamine diseases, comprising the step of administering an effective amount of a precursor of propionyl-CoA to an individual in need thereof.

Description

FIELD OF THE INVENTION[0001]The present invention relates to the treatment and the prevention of Huntington disease and other polyglutamine diseases.BACKGROUND OF THE INVENTION[0002]Huntington disease (HD) is a devastating inherited neurodegenerative disease without curative treatment. HD is the founding member of a large group of diseases due to to polyglutamine accumulation and toxicity. There is a critical need for new insights in the pathophysiology of this disease, as well as for the identification of relevant molecules for clinical trials.[0003]Several observations have led to the hypothesis that mitochondrial dysfunction has a role in polyglutamine diseases, and in Huntington disease in particular. Several lines of evidence indicate abnormal energy metabolism, including reduced glucose metabolism, elevated lactate levels and impaired mitochondrial-complex activity (Di Prospero and Fischbeck 2005, Nat Rev Genet 6(10): 756-65). To explain this abnormal energy metabolism most st...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): A61K31/225A61K31/20A61P25/00A61K31/19A23L29/00
CPCA23L1/032A23L1/3008A23V2002/00A61K31/225A23L1/3006A23V2200/322A23L29/04A23L33/115A23L33/12A61P25/28
Inventor DURR, ALEXANDRAMOCHEL, FANNY
Owner INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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