Angiotensin‐converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis

Abstract

Subacute sclerosing panencephalitis (SSPE) is a progressive, debilitating, and fatal brain disorder caused by mutant measles virus infection. Although both viral and host factors seem to be involved in SSPE, the exact pathogenesis remains to be determined. Autoimmune demyelination is characteristic of SSPE. The blood angiotensin-converting enzyme (ACE) activity and angiotensin II (Ang II) levels are associated with the ACE gene polymorphism. Proinflammatory effects of Ang II may contribute to the development of SSPE. The aim of this study was to investigate whether the ACE and Ang II type 1 receptor (AT1R) (A1166C) gene polymorphisms were associated with SSPE. The polymorphisms were investigated by polymerase chain reaction (PCR) in 43 patients with SSPE and 100 healthy controls. The genotype distribution of the SSPE children and healthy controls were as follows: DD 58.1% versus 34.0, ID 37.2% versus 48.0%, and II 4.7% versus 18.0, respectively (P = 0.012). Allele frequencies of patients and controls were D 76.7% versus 58.0%, and I 23.3% versus 42.0%, respectively (P = 0.004). The frequency of DD genotype and D allele were significantly higher in SSPE children compared with controls (P < 0.05). AT1R gene polymorphism distribution was found to be similar in SSPE children and control subjects: AA 55.8% versus 60.7%, AC 37.2% versus 32.1%, and CC 7.0% versus 7.2%, respectively (P > 0.05). In conclusion, the results of this study suggest that the DD genotype of ACE I/D polymorphism may be related to SSPE. Due to small size of this study, further studies with more patients are needed to confirm these results.

Survey of Subacute Sclerosing Panencephalitis in Japan

“…In contrast, several recent reports have suggested that mutations in host interleukin-2, interleukin-4, interleukin-12, myxovirus resistance A, and angiotensin-converting enzyme genes are probably related to the onset of subacute sclerosing panencephalitis. [13][14][15][16] However, no data on gene mutation are available from Okinawa, and further research is needed to elucidate the mechanisms of onset.…”

Characteristics of Viruses Derived from Nude Mice with Persistent Measles Virus Infection

“…The association of host genes with immunity has been investigated. Several recent reports of polymorphisms in SSPE patients have suggested that the genes for interleukin-2 (IL-2), IL-4, IL-12, myxovirus resistance A, and angiotensin-converting enzyme are related to the onset of SSPE (23)(24)(25)(26). In particular, T-cell immunity is an important factor for the elimination of MV infection (1,27).…”

The immunogenetics of subacute sclerosing panencephalitis: A comprehensive review

“…[26] Taşdemir et al demonstrated that the frequency of DD genotype and D allele was significantly higher in SSPE children. [27] Three candidate genes, MxA, IL-4 and IFN regulatory factor 1 genes, were studied in Japanese patients with SSPE. The TT genotype of MxA and CT genotype of IL-4 were found to relate SSPE susceptibility.…”