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A novel remitting leukodystrophy associated with a variant in FBP2
Agnieszka Gizak1, Susann Diegmann2, Steffi Dreha-Kulaczewski2
1Department of Molecular Physiology and Neurobiology, University of Wrocław, 50-335 Wrocław, Poland.
Brain Communications
|May 12, 2021
Summary
A novel genetic disorder causes remitting leukodystrophy, characterized by temporary white matter damage and recovery. This condition stems from a variant in the FBP2 gene affecting brain energy metabolism.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Leukodystrophies are typically progressive genetic white matter disorders.
- A unique family presented with a relapsing-remitting neurological disorder.
Purpose of the Study:
- To investigate the genetic basis of a novel remitting leukodystrophy.
- To understand the molecular mechanisms underlying the observed white matter abnormalities.
Main Methods:
- Exome sequencing to identify genetic variants.
- Cerebral MRI and myelin-sensitive imaging for white matter assessment.
- Biochemical analysis of enzyme function and cellular studies.
Main Results:
- A heterozygous variant (c.343G>A, p.Val115Met) in the FBP2 gene was identified in affected family members.
- The FBP2 variant impairs enzyme activity, substrate affinity, and stability, affecting cellular functions.
- White matter abnormalities were observed in FBP2 variant carriers, with evidence of demyelination and remyelination.
Conclusions:
- The FBP2 variant is associated with a novel form of remitting leukodystrophy.
- Disruption of cerebral energy metabolism and cellular functions by the FBP2 variant underlies the disease.
- This finding expands the spectrum of leukodystrophies and their genetic causes.
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