X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults. The most affected tissues are the white matter of the brain and adrenal cortex. MRI demonstrates a characteristic imaging appearance in cerebral X-ALD that is used as a diagnostic tool. OBJECTIVES: We aim to correlate a mutation in the ABCD1 gene in a chimpanzee to the human disease X-ALD based on MRI features, neurologic symptoms, and plasma levels of VLCFA. METHODS: Diagnosis of X-ALD made using MRI, blood lipid profiling, and DNA sequencing. RESULTS: An 11-year-old chimpanzee showed remarkably similar features to juvenile onset cerebral X-ALD in humans including demyelination of frontal lobes and corpus callosum on MRI, elevated plasma levels of C24:0 and C26:0, and identification of the c.1661G>A ABCD1 variant. CONCLUSIONS: This case study presents the first reported case of a leukodystrophy in a great ape, and underscores the fidelity of MRI pattern recognition in this disorder across species.

Psychological Distress in Chimpanzees Rescued From Laboratories.

The United States is one of the last countries allowing invasive research on chimpanzees. Biomedical research on chimpanzees commonly involves maternal deprivation, social isolation, intensive confinement, and repetitive invasive procedures. These physically harmful and psychologically traumatic experiences cause many chimpanzees to develop symptoms of psychopathology that persist even after relocation from laboratories to sanctuaries. Through semistructured interviews with chimpanzee caregivers, direct behavioral observations, and consultation of laboratory records, we were interested in qualitatively analyzing symptoms of psychological distress in a sample of 253 chimpanzees rescued from biomedical research now residing at an accredited chimpanzee sanctuary. We present the results of this analysis and include an illustrative case study of one rescued chimpanzee who engages in self-injurious behaviors and meets modified Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, criteria for posttraumatic stress disorder. We discuss our results in light of recent policy changes regarding the use of chimpanzees in biomedical research in the United States and their implications for those involved in the rescue and rehabilitation of chimpanzees from biomedical research.