Mediating Effects of Hope and Therapeutic Relationship in the Relation between General Social Functions and Mental Health Recovery of Community People with Mental Illness

PURPOSE: This study tries to test mediating effects of hope and therapeutic relationship in the relation between general social functions and mental health recovery of community people with mental illness. METHODS: This study was carried out in a cross-sectional research design. The participants included 217 people with mental illnesses who were enrolled at eight Mental Health Welfare Centers in the Gyeonggi Province. Data were collected from February to May, 2018. The collected data were analyzed using a regression analysis, and SPSS PROCESS macro was used to test the mediating effects. RESULTS: This study analyzed the direct effects of general social functions on the hope, therapeutic relationship and mental health recovery. And general social functions had indirect effects on their mental health recovery via hope and therapeutic relationship. Both hope and therapeutic relationship had dual mediating effects in the influence of general social functions on mental health recovery. CONCLUSION: The role of hope and therapeutic relationship in the mental health recovery of community people with mental illness is important, and it is confirmed that hope is a powerful factor influencing mental health recovery.

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNA(Leu(UUR)) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.

A MELAS syndrome family harboring two mutations in mitochondrial genome

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. Neither of these mutations was found in 205 normal controls. Both mutations were identified from the proband and his mother, but not his father. The patients showed cataract symptom in addition to MELAS phenotype. We believe that the 9957T>C mutation is pathogenic, however, the 13849A>C mutation is of unclear significance. It is likely that the 13849A>C mutation might function as the secondary mutation which increase the expressivity of overlapping phenotypes of MELAS and cataract. This study also demonstrates the importance of full sequencing of mtDNA for the molecular genetic understanding of mitochondrial disorders.

Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations

BACKGROUND: Mutations in mitofusin2 (MFN2) are a major underlying cause of axonal Charcot-Marie-Tooth neuropathy (CMT). It has been reported that patients with an early age of onset ( or =10 years, LO) in CMT2A with MFN2 mutations. There are few studies about CMT patients with MRI studies and we performed leg MRIs for better understanding of CMT2A. METHODS: We identified 19 patients (EO=10; LO=9) with MFN2 mutations. We used functional disability scales and CMT neuropathy scales for the grading of disability. Nerve conduction studies and MRIs of the lower leg were performed in all patients. RESULTS: We confirmed that EO had more severe leg muscle involvement than LO by leg MRI. In 7 out of 9 in LO, there were some degree of asymmetric leg muscle weakness and MRI findings explained the nature of asymmetry, that is, asymmetric cross-sectional areas or fatty infiltration. MRI of EO showed marked fatty infiltration on all three compartments whereas that of LO showed rather selective involvement of the posterior compartment. These results were well correlated with clinical findings that in LO, five patients could not do toe walking whereas only one could not do heel walking. CONCLUSIONS: MRI of the leg may be a useful tool for evaluating axonal CMT neuropathy, and asymmetric leg muscle weakness may be the characteristics of an axonal CMT. In addition, more prominent involvement of the posterior leg in LO is a very interesting phenomenon, which is in contrast to the length-dependent involvement in congenital demyelinating neuropathy.

Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.

X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene

X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.

Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea

Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the Hae III restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.