Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease (HO-MA)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

NA

Total Enrollment

30 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-02-29

Study Completion Date

2025-12-31

Brief Summary

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Alzheimer's disease (AD) is the leading cause of dementia in France. It is a multifactorial pathology, combining genetic and environmental risk factors. Homocysteine, a sulfur-containing amino acid belonging to the methionine-monocarbon cycle, has frequently been found at high levels in neurodegenerative diseases, and in AD in particular. It has been shown on human brain sections that the interaction of homocysteine with tau and MAP1, two key AD proteins, was significantly higher in AD patients than in controls, and corresponded to an N-homocysteinylation type interaction.

This is a prospective study, the main objective of which is to compare MAP1 N-homocysteinylation levels in fibroblasts from individuals with AD versus disease-free cell lines.

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Detailed Description

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Conditions

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Alzheimer Disease

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

FACTORIAL

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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alzheimer's disease patients

Alzheimer's disease patients with positive biomarkers who started their disease before age 75 and benefited from genetic research.

Group Type EXPERIMENTAL

skin biopsy

Intervention Type OTHER

skin biopsy for cell culture and N-homocysteinylation study

Control group

control cell lines from patients free of alzheimer's disease

Group Type OTHER

skin biopsy

Intervention Type OTHER

skin biopsy for cell culture and N-homocysteinylation study

Interventions

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skin biopsy

skin biopsy for cell culture and N-homocysteinylation study

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* age \> 18 years
* Age of onset of AD \< 75 years
* Person with AD with positive CSF biomarkers
* Person who has previously benefited from an analysis of AD genetic characteristics (APP, PSEN1, PSEN2, TREM2, ABCA7, SORL1 genes and ApoE status) and an analysis of monocarbon metabolism genes in the case of biochemical abnormalities by clinical exome, targeted panel or complete exome, and for whom the data set is already available.

Exclusion Criteria

* Pregnant, parturient or breast-feeding women
* Minor (not emancipated)
* Person of legal age (subject to a legal protection measure)
* Adult unable to give consent

Eligible Sex

ALL

Accepts Healthy Volunteers

No