Motilitätstests des Gastrointestinaltraktes (inkl. Langzeit-pH-Metrie)

Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?

“…A synergistic interaction between the simultaneous secondary and mildly deleterious mutations has been postulated (41). The most frequently encountered secondary mutations are located at nt 4216 (ND-I), nt 4917 (ND-2) and nt 13,708 (ND-5) in the respiratory complex I genes An increasing number of case reports on LHON mutations in MS patients can be found in the recent literature (20)(21)(22)(23)(24)(25)(26). Harding et al (20) reported 8 women with an MS-like illness who carried the 11,778 mutation.…”

“…However, neither of these mutations were found in 307 unselected MS patients (22). Subsequently, further case reports on MS patients with primary LHON mutations were documented (23,24). In addition to the MS centered studies, a large survey of LHON patients revealed that 5 of 11 (45%) females with the 11,778 mutations had an MS-like illness on MRI images.…”

“…Thus, restriction site polymorphism and haplotype analysis confirms and integrates data from previous studies suggesting a tendency for increase of polymorphic mutations at 4216, at 13,708 (43-45), and at 14,798 (52) in MS. As pathogenic LHON mtDNA point mutations preferentially occur in haplogroup J (defined by secondary LHON mutations at nt 4216 and 13,708), the reported association between LHON and MS may be, at least in part, related to the overlapping mitochondria1 genetic background of the 2 diseases (56). LHON families (14-19,25, 26), and the detection of primary LHON mutations in some MS patients (20)(21)(22)(23)(24) raises the possibility that a shared genetic background of the 2 diseases exists. Restriction site polymorphism and haplotype analysis reveals that certain mtDNA haplotypes in haplogroup K and J are associated with MS.…”