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

Central Hospital, Nancy, France

Status: Not yet enrolling

Conditions: Alzheimer Disease

Treatments: Other: skin biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT06168955

2023-A01502-43

Details and patient eligibility

About

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.

Enrollment: 30 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Factorial Assignment

Masking: None (Open label)

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30 participants in 2 patient groups

alzheimer's disease patients

Experimental group

Description:

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

Treatment:

Other: skin biopsy

Control group

Other group

Description:

control cell lines from patients free of alzheimer's disease

Treatment:

Other: skin biopsy