Tcm Constitution, 14484 Point Mutation Of Leber's Hereditary Optic Neuropathy

Leber hereditary optic neuropathy (LHON) is the most common maternally inherited disease caused by mitochondrial DNA mutations .The severe impairment of vision is not only the enormous suffering to the patients themselves, but also the heavy burden to their families and the society.This research is conducted under the guidance of Traditional Medicine Constitution Theory to study the clinical characters and the Traditional Medicine Constitution Typing of 14484-gene-locus-mutation LHON in epidemiological points of view. In the study, the relationship between the incidence and the Traditional Medicine Constitution Type of LHON is also discussed. The conclusion may be useful to guide the clinical treatment and prevention of the disease.This thesis includes two parts, which are review and clinical study of LHON. The review includes two parts. One is Leber Hereditary Optic Neuropathy. The other is The Study of Basic Traditional Medicine Theory of Leber Hereditary Optic Neuropathy. In the first part, the biochemistry, gene detection, histopathology , clinical feather, diagnosis, differential diagnosis, treatment, prognosis and genetic counseling of LHON are interpreted. In the second part, the theories and viewpoints about LHON in different periods of Traditional Chinese Medicine development are remarked.Abstract of the clinical study part: Objective To study the clinical manifestation and the Traditional Medicine Constitution Typing of 14484-gene-locus-mutation LHON in epidemiological points of view, and discuss the relationship between the incidence and the Traditional Medicine Constitution Type of LHON. Methods The clinical and historical data of 169 matrilineal relatives from 10 separate 14484-gene-locus-mutation LHON families were selected during the period between July 2003 and April 2006. Pedigree diagrams of each family were drew. 135 persons of the 169 matrilineal relatives were tested by the Traditional Medicine Constitution Questionnaire to identify their Traditional Medicine Constitution Type. Results The penetrance of the 169 matrilineal relatives was 27.8%(47/169). All the patients had acute or sub-acute bilateral vision loss. 71.4% of the patients recovered spontaneous during the follow-up of 235.81 months, the recovery rate of female patients (78.3%) was higher than male patients (50%). The incidences of different Traditional Medicine Constitution Types from higher to lower were: Depressed Vital Energy Type (55.56%), Deficiency of Vital Energy Type (40%), Moist Heat Type (33.33%), Yin Asthenia Type (31.82%), Stagnant Blood Type (20%), Phlegmatic Hygrosis Type (16.67%) and Normal Type (12.5%). There were significant differences between the incidences of all the types (P<0.05) and between the incidences of Normal Type and Depressed Vital Energy Type (P<0.01). There was no significant difference among the incidences of other Traditional Medicine Constitution Types.Conclusion The clinical feature of 14484-gene-locus-mutation LHON is similar to LHON with other gene locus mutations. There is correlation between the Traditional Medicine Type and the incidence of LHON. Depressed Vital Energy Type has significant effect on the onset of LHON.