Ignite Creation Date:
2024-05-06 @ 11:38 AM
Last Modification Date:
2024-10-26 @ 12:48 PM
Study NCT ID:
NCT03566745
Status:
UNKNOWN
Last Update Posted:
2018-06-25
First Post:
2018-06-12
Brief Title:
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
Sponsor:
Hillel Yaffe Medical Center
Organization:
Hillel Yaffe Medical Center
Study Overview
Official Title:
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
Status:
UNKNOWN
Status Verified Date:
2018-06
Last Known Status:
NOT_YET_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
In a previous study we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus IIN and foveal hypoplasia which follow an autosomal recessive mode of inheritance of AhR gene in this study we will determine whether the disease phenotype is the consequence of a decrease in or absence of AHR-induced AHH activity
Detailed Description:
In a previous study we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus IIN and foveal hypoplasia which follow an autosomal recessive mode of inheritance of AhR gene in this study we will
1 To determine whether the disease phenotype is the consequence of a decrease in or absence of AHR-induced AHH activity To this end basal and ligand-mediated AHH enzyme activity will be compared in heterozygotic and homozygotic family members versus healthy volunteers
2 To examine steady state protein levels of the AHR protein in cells of homo- and heterozygotic patients versus those of healthy volunteers If no mutant protein is detected we will determine the effect of the mutation on mRNA stability
3 To analyze steady state levels of related partner proteins such as ANRT and proteins levels of transcriptional targets AHH in heterozygotic and homozygotic family members versus healthy volunteers
4 To investigate the ability of the mutant allele to induce transcriptional activation in an engineered yeast test system We will use a yeast strain engineered to contain human AHR and AHR nuclear translocator together with a reporter gene to investigate whether the mutation interferes with transcription activation
1 To determine whether the disease phenotype is the consequence of a decrease in or absence of AHR-induced AHH activity To this end basal and ligand-mediated AHH enzyme activity will be compared in heterozygotic and homozygotic family members versus healthy volunteers
2 To examine steady state protein levels of the AHR protein in cells of homo- and heterozygotic patients versus those of healthy volunteers If no mutant protein is detected we will determine the effect of the mutation on mRNA stability
3 To analyze steady state levels of related partner proteins such as ANRT and proteins levels of transcriptional targets AHH in heterozygotic and homozygotic family members versus healthy volunteers
4 To investigate the ability of the mutant allele to induce transcriptional activation in an engineered yeast test system We will use a yeast strain engineered to contain human AHR and AHR nuclear translocator together with a reporter gene to investigate whether the mutation interferes with transcription activation
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None