Healthy Volunteers Clinical Trial
Official title:
Development of the Tool " iPSC " (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations
According to the World Health Organization (WHO), mental retardation (MR) is defined by an
intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
Profound mental retardation (QI <25), severe (IQ: 25-40) and moderate (QI : 40-50) have a
prevalence of 0,3-0,5% while the prevalence of mild MR, defined by an IQ between 50 and 70 is
evaluated to about 1,5 %.
The origin of MR can be infectious, toxic, traumatic, genetic or environmental. genetic
causes of MR gather the number and structure anomalies of the chromosomes, the genomic
microreorganization, monogenic diseases and more rarely other non Mendelian-inherited
anomalies like print or epigenetic anomalies, mutations of the mitochondrial genome etc...
Genetic causes represents 50% of moderate to severe, whereas environmental factors
(malnutrition, cultural deprivation,...) plays an important role in mild MR.
The main goal of this study is to get an innovative tool (neuronal distinction of iPSC) that
wil allow to study the functionnal impact of mutations uppon genes probably involved in MR
like MYT1L. The main criteria associated to characterisation of the tool by the trial is the
study of the pluripotency of iPSC obtained and to highlight the mutation of the gene MYT1L in
the iPSC.
Neurons from the iPSC of the patient and his father du patient wille also be morphologically
characterised, but also thanks to the expression of specifically neurals genes.
Characteristics of iPSC and neurons from d'iPSC with MYT1L mutation will be compared among
the patient and his father, in relation with the same cells coming from the two witnesses.
n/a
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