Mitochondriale Enzephalopathie (MFE)
Mitochondrial fission encephalopathy (MFE)
General description
A mutation in the MFF gene causes Mitochondrial fission encephalopathy (MFE) in the breed Bullmastiff. Symptoms in homozygously affected dogs are ataxia, an uncoordinated gait and behavioural abnormalities.
Breeds
Bullmastiff
Order details
| Test number | 8521 |
| Abbreviation | MFE |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MFF |
| Mutation | COMPLEX |
| Literature | OMIA:002551-9615 |
Detailed description
A mutation in the MFF gene causes Mitochondrial fission encephalopathy (MFE) in the breed Bullmastiff. Symptoms in homozygously affected dogs are ataxia, an uncoordinated gait and behavioural abnormalities. The symptoms already start at a very young age and are gradually progressing. Additional symptoms are a wide base stance posture and decreased vision. A neurological examination suggested a disease of the cerebral cortex and the vestibulo-cerebellum and MRI confirmed cerebellar alterations.
