# GENETIC CAUSES OF MENTAL RETARDATION

> **NIH NIH P01** · HUGO W. MOSER RES INST KENNEDY KRIEGER · 1994 · $1,089,857

## Abstract

During the last 5 years thirteen separate peroxisomal disorders have been
identified and severe mental retardation has been shown to be a consistent
feature in ten.  All of these disorders can be diagnosed by noninvasive
tests and our laboratory has identified more than 2000 patients.  This
proposal is designed to determine the biochemical and molecular basis of
these disorders, to examine the pathogenesis of the mental retardation, and
to provide information that will aid the development and evaluation of
therapy.  This program project application consists of five closely
interconnected research projects and three cores.  The first three projects
study X-lined adrenoleukodystrophy (ALD), the most common peroxisomal
disorder.  ALD shows striking phenotypic intrafamilial variability and this
is examined in Project 1, both to obtain information about natural history,
which is required for evaluation of therapy, and to test the hypothesis
that the variability is due to the action of a modifier gene.  In Project
2, the aims are to isolate and characterize the ALD gene, which has been
mapped to Xq28.  Project 3 is designed to purify and clone lignoceroyl-CoA
ligase, the enzyme that appears to be defective in ALD.  The objective of
Project 4 will be to characterize the genes the encode peroxisomal proteins
and to identify human mutants in an archive of cell lines from patients
with peroxisomal disorders assembled in our laboratory.  This project will
also correlate genotype with the neuropathological alterations that cause
mental retardation.  In Project 5, the aims are to purify and clone L-
pipecolic oxidase, an enzyme that is deficient in all of the disorders of
peroxisomes biogenesis.  The projects will be supported by molecular
biology, biostatistics, and administrative cores.

## Key facts

- **NIH application ID:** 2196761
- **Project number:** 5P01HD010981-17
- **Recipient organization:** HUGO W. MOSER RES INST KENNEDY KRIEGER
- **SAM.gov UEI:** DKMDCB5HNBL7
- **Principal Investigator:** HUGO W MOSER
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $1,089,857
- **Award type:** 5
- **Project period:** 1978-01-01 → 1996-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2196761

## Citation

> US National Institutes of Health, RePORTER application 2196761, GENETIC CAUSES OF MENTAL RETARDATION (5P01HD010981-17). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2196761. Licensed CC0.

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