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Maternal inheritance in cyclic vomiting syndrome
Richard G Boles1, Kathleen Adams, B U K Li
1Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, California, USA. r.boles@chla.usc.edu
American Journal of Medical Genetics. Part A
|January 12, 2005
Summary
Mitochondrial DNA (mtDNA) sequences may predispose individuals to cyclic vomiting syndrome (CVS). Maternal inheritance patterns suggest a genetic link in CVS and related conditions like migraine and depression.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Cyclic vomiting syndrome (CVS) is a disabling condition, primarily in children, often linked to migraines and dysautonomia.
- Previous research indicated maternal inheritance and abnormal urine organic acids in CVS patients with neuromuscular disease, suggesting mitochondrial DNA (mtDNA) variants.
Purpose of the Study:
- To investigate the prevalence of maternal inheritance in a general population of individuals with CVS.
- To determine if predisposing mtDNA sequences are associated with CVS and related conditions.
Main Methods:
- A clinical interview was conducted with 80 unrelated individuals diagnosed with CVS.
- Family history data was collected to assess inheritance patterns of disease manifestations.
Main Results:
- Disease manifestations suggestive of mitochondrial dysfunction were significantly more common in matrilineal relatives (mothers, grandmothers) compared to non-matrilineal relatives.
- Maternal inheritance was observed in 52% of subjects with neuromuscular abnormalities and 54% without.
- Conditions like migraine, depression, irritable bowel syndrome, and hypothyroidism were prevalent in matrilineal relatives, suggesting a common genetic factor on mtDNA.
Conclusions:
- mtDNA sequences appear to predispose individuals to diverse manifestations in CVS patients and their matrilineal relatives.
- While predisposing mtDNA sequences are present, CVS itself is a rare presentation among carriers.
- Migraine, depression, irritable bowel syndrome, and hypothyroidism may share a common genetic basis on the mtDNA in families with CVS.