Mitochondrial DNA transmission and confounding mitochondrial influences in cloned cattle and pigs

[摘要] Background: Tuberous Sclerosis Complex (Bour­neville’s disease) is genetic disorder with autosomal pattern of heritence that affecting differentiation sellular in many organ such as brain, lungs, cardiac with varible severity. Birth incidence is estimated to be 1:6000. The purpose of this study was to reported a case of patients with Bourneville’s disease (tuberous sclerosis complex) in Moewardi Hospital. Also reported surveillance and complication in this patient. Case Presentation : A male, 18 yearsold, with seizures, onset from infancy, tonic secondary generalized seizure pattern simultaneously throug­h­out the body. Neurologic status exami­nation found right hemiparese and mental re­tarda­tion, Encountered in patients with skin disorders such as butterfly appearance with facial angiofibroma, forehead fibrous plaque dan shar­green patch. Abnormalities also appeared in the oral mucosa as multiple papules. When psych­ological tests patient had difficulty following instructions. Psychiatric examination showed mode­rate lower intelegence. EEG results slow waves at left parietal, there is severe electro­fisio­logic abnormality considered structural lesi­on in left parietal. CT showed multiple calci­fied nodul­es in subependymal right and left lateral ventri­cle. MRI showed  atrophy and left sclerotic hip­po­campus with glosis in sub cortex occipito left parietal. To overcome the seizure patients given Carbamazepine. There was in­creas­ing of trans­aminase enzim, liver suspect liver angio­myo­lipoma. Conclusion: Based on clinical criteria for definite tuberous sclerosis complex patients met the criteria. The patients responded positively to carbamazepine that reduced seizure frequency. But somehow, patient's prognosis is worst. Pre­sence of intellectual impairment and neuro­psy­chiatric problems is a potential poor epilepsy control, and liver disfunction so that the necessa­ry comprehensive management and surveillance involves other disciplines.

[学科分类] 工业工程学

[关键词] Animal cloning Heteroplasmy Mitochondria Mitochondrial DNA Nuclear transfe