Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to
Kenji Shimizu1, Daiju Oba1, Ryusuke Nambu2
1Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Background:
Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder due to hemizygous mutations of BCAP31.
Methods:
We report an 8-year-old boy with DDCH who possibly accompanied mitochondrial dysfunction. Clinical evaluation, respiratory chain enzyme assay, and whole exome sequencing analysis were performed.
Results:
Mitochondrial dysfunction was suspected by respiratory chain enzyme assay on his cultured skin fibroblasts which showed significantly decreased complex I enzyme activity. Whole exome sequencing analysis revealed a recurrent BCAP31 mutation (c.97C>T:p.Gln33*) which confirmed the diagnosis of DDCH for the patient.
Conclusion:
We speculate that mitochondrial dysfunction may be a feature in patients with DDCH.
Insights
Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder. This study suggests mitochondrial dysfunction may be a feature in patients with DDCH, indicated by decreased complex I activity.
Area of Science:
- Genetics
- Neuroscience
- Biochemistry
Background:
- Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder.
- DDCH is caused by hemizygous mutations in the BCAP31 gene.
Observation:
- An 8-year-old boy with DDCH was evaluated.
- Clinical assessment and biochemical tests were performed.
- Fibroblast cultures showed significantly decreased Complex I enzyme activity.
Findings:
- Whole exome sequencing identified a recurrent BCAP31 mutation (c.97C>T:p.Gln33*), confirming the DDCH diagnosis.
- The patient exhibited signs suggestive of mitochondrial dysfunction.
- Reduced Complex I activity in fibroblasts supports the hypothesis of mitochondrial involvement.
Implications:
- Mitochondrial dysfunction may be an underrecognized feature of DDCH.
- Further research is warranted to explore the link between BCAP31 mutations and mitochondrial health.
- This finding could inform future diagnostic and therapeutic strategies for DDCH.
