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BACKGROUNDRecent studies have indicated that many mutations in mitochondrial (mt) DNA NDI gene region are related to diabetes mellitus. In this study we explored the relationship between various mtDNA ND1 gene mutations and type 2 diabetes mellitus (DM) among Chinese.

METHODSUsing PCR restriction fragment length polymorphism (PCR-RFLP) analysis and gene sequencing, 4 spots of mtDNA (nt3243, nt3316, nt3394, nt3426) were screened in 478 diabetics and 430 non-diabetic subjects.

RESULTSIn diabetic group, there were 13 carriers (2.72%) of 3316 G-->A mutation,12 (2.51%) of 3394 T-->C mutation and 2 (0.42%) of 3426A-->G mutation. In controls, only 3394 T-->C mutation was observed in 2 subjects (0.47%). There was significant difference in the frequency of 3316 and 3394 mutation between two groups (P < 0.05, respectively). More subjects with mitochondrial DNA ND1 gene mutations had DM family history and greater tendency of maternal inheritance when compared to those patients without mutation in diabetic group (P < 0.01). A 3426 mutation diabetic pedigree was studied, and we found 12 maternal members in the family had the same mutation.

CONCLUSIONmtDNA ND1 gene mutations at nt3316 (G-->A), nt3394 (T-->C) and 3426 (A-->G) might contribute to the pathogenesis of DM with other genetic factors and environment factors.

Base Sequence ; DNA, Mitochondrial ; genetics ; Diabetes Mellitus, Type 2 ; genetics ; Humans ; Molecular Sequence Data ; Mutation ; NADH Dehydrogenase ; genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Sequence Analysis, DNA

9.Analysis of the thoracolumbar fracture with ankylosing spondylitis.

Xin LIU ; Ren-xiao BAI ; De-da LI ; Bo ZHU ; Jiang WU

China Journal of Orthopaedics and Traumatology 2009;22(7):488-490

OBJECTIVETo review the clinical features of the thoracolumbar fracture with ankylosing spondylitis (AS) in order to avoid delayed or missed diagnosis.

METHODSFive patients of thoracolumbar fracture with AS treated from April 2005 to June 2007 in our department were studied retrospectively, male 4 cases, female 1 case, the age from 26- to 72-years-old with an average of 44.8 years. Analysis including: case history, number of the ankylosed vertebras, characteristic of fracture, active state rheumatism.

RESULTSThe patients had the history of AS for average 22.6 years. The mean number of the ankylosed vertebras was 18.2. Of the 5 cases, 1 case encountered traffic accident, 1case was sprained, and 3 cases without trauma were diagnosed as stress fracture. Two cases were trans-vertebra fracture: the fracture line was through T6, T7, or L1 vertebral body respectively; 3 cases were through the disc space: 2 cases were through L1,2 disc space, 1 case was through L2,3. No compression fracture and neurological injury were found. The acute inflammatory index such as ESR and CRP in 4 cases didn't correlate with the degree of pain. The non-steroidal anti-inflammatory drugs (NSAIDs) hadn't significant effectiveness in relieving pain. The patients were diagnosed as 'relapse' of AS in other hospital, and had been misdiagnosed for average 1.51 months.

CONCLUSION1) the fracture is prevalent at the middle or late period of AS when extensive ankylosis has been existed at the thoracolumbar region; 2) the fracture is common at the lower thoracal spine and the upper lumbar spine, and the majority is the stress fracture; 3) the fracture line may be through the vertebral body, but more often through the disc space; 4) it is like an exacerbation of AS and therefore to be missed diagnosis; 5) when the back pain exacerbated suddenly in the middle or late period of AS, the degree of pain not correlating with acute inflammatory index, and the NSAIDs ineffective, the thoracolumbar fracture should be considered.

Aged ; Female ; Humans ; Lumbar Vertebrae ; injuries ; Male ; Middle Aged ; Retrospective Studies ; Spinal Fractures ; diagnosis ; drug therapy ; etiology ; Spondylitis, Ankylosing ; complications ; Thoracic Vertebrae ; injuries