Mitochondrial genetic disease causing mutations of wet earwax with genetics osmidrosis family

Part Ⅰ:Pathogenic mutation study in mitochondrial diseases Genetic mapping and mutation screening in hereditary optic neuropathyMigraine is the primary brain malfunctioned disease with the features of recurrent unilateral or bilateral headache, which can be classified as migraine with aura and migraine without aura. Many cases of migraine are familial ones and it was considered a complex genetic disease. Relationship between migraine and mitochondrial function has long been noticed, but direct and distinct genetic evidences remain undetected. In this study, we found a Chinese Han family of maternally hereditary migraine without aura and performed mutation screening of the full-lengthier mitochondrial DNA in the patients by polymerase chain reactions and direct sequencing after amplification. We found the homogenous mutations of C123098T and C8436T in gene ND5and MTATP8separately with the latter one absent in132normal controls and the former one found in an individual with type2diabetes. The author discussed the possible significance of these two findings and provided further plans of research in this topic. Mutation screeing in hereditary migraineHereditary optic neuropathies are a group of heterogeneous diseases with similar manifestations of optic atrophy that are not clinically easily differentiated. Genetic methods used in the diagnosis can improve the accuracy in clinical decisions and provide information for genetic counseling. In this study, we performed genetic diagnosis in a Chinese Han family with hereditary optic neuropathy. We ruled out the possibility of OPA1which is an autosomal dominant type of optic neuropathy in the patients by linkage analysis. Mutation screening of the three mutation hotspots in Leber’s hereditary neuropathy revealed the G11778A homogenous mutation in all the affected members, thus confirming the diagnosis as the mitochondrial Leber’s hereditary neuropathy. We further tested some reported secondary mutations and the related modified polymorphism Arg72Pro in gene TP53. None of the secondary mutations was found in the family and the allele type of TP53Arg72was confirmed in all the affected members which was reported to be related to the early onset of optic loss. The strategy in diagnosis of the primary optic atrophy was discussed and the author recommends the genetic diagnostic methods applicable in Chinese population along with the genetic counseling. PartⅡ:Genetic study in a family with both wet cerumen and bromhidrosisThe wet and dry types of cerumen are Mendelian phenotypes decided by the genotype of rs17822931in gene ABCC11. Wet cerumen represents dominant phenotype compared to dry type with the genotype of GA and GG Bromhidrosis is a disease with feature of autosomal dominant hereditary and often appears with wet cerumen, but the genetic backgrounds of bromhidrosis have not been determined. In this study, we reported a Chinese Han family with both wet cerumen and bromhidrosis and performed genotyping of rs17822931in the patients. The genotype was found to be GA in the proband by polymerase chain reaction and direct sequencing and was confirmed in all the affected members by both restriction fragment length polymorphism analysis and high resolusion melting analyis, while all the healthy members bear the genotype of AA. This represents the first prove of the relationship between rs17822931genotype and bromhidrosis in family cases. The correlation of the wet cerumen with bromhidrosis was discussed as well.