Diagnosis of Muscular Dystrophy Using Western Blot with Micro-sample of Muscle / 中国医学科学院学报

<p><b>OBJECTIVE</b>To diagnose muscular dystrophy using Western blot (WB) by improving the method of the protein extraction.</p><p><b>METHOD</b>Firstly,we compared the effect of different sample buffer solutions and processing Methods on the extraction of muscle protein in rats,then selected the appropriate extracting method and the process of the muscular protein.</p><p><b>RESULTS</b>We put the selected sample buffer into the micro-sample,then mixed. The concentration of the extracting protein was much more,and the loss during the process was much less. We extracted enough protein in 62 cases. The protein bands were showed clearly by WB,and the abnormal protein bands were shown in some patients. Compared with the Results of immunohistochemical staining detected the severe abnormal expressions of Dys-R,Dys-C,and Dys-N in the specimens,we did not detect the corresponding target band in WB. We detected the target protein band of the specimens were abnormal position,light or normal staining in WB,while Dys were mildly expressed in immunohistochemical staining.</p><p><b>CONCLUSIONS</b>The improved protein extraction method can save the muscle tissue,and the protein bands can be used for diagnosing the muscular dystrophy. For clinically suspected patients with dystrophinopathy,if normal or mild deficiency is shown by immunohistochemistry,WB should be applied to detect the dystrophin protein band.</p>

Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease. There have been several genome-wide association (GWA) studies reporting several single nucleotide polymorphisms (SNPs) which are susceptible to ALS, but no data of Asians (including Chinese) yet. We investigate whether the polymorphism of rs10260404 in DPP6 gene is associated with SALS in Chinese Han origin to compare the ethnic differences between Chinese Han origin and other populations.</p><p><b>METHODS</b>The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on a light scanner using high resolution melting method and some were confirmed with sequencing.</p><p><b>RESULTS</b>The rs10260404 polymorphism was in Hardy-Weinberg equilibrium in patients and controls. The CC genotype and the C allele were similar in patients compared with healthy subjects and not associated with an increased risk of Chinese SALS patients (chi(2) = 0.29, OR = 1.26, 95% CI 0.55 - 2.87, P > 0.05).</p><p><b>CONCLUSIONS</b>The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences. More study with large number of cases in Chinese population is really necessary.</p>

Clinicopathological observation On two sensory,neuronopathy cases / 中华神经科杂志

Objective To determine the clinical features,neurophysiological characteristics and cervical magnetic resonance imaging of sensory neumnopathy,and to describe the pathology of skin nerve, sural nerve and spinal dorsal columns.Methods Two patients who died from sensory neuron disease (SND)after infection of digestive tract were discussed including clinical features and ancillary tests which included neurophysiology and pathology of peripheral nerve and spinal dorsal columns.Associated documents are reviewed.Results Early ataxia,widespread sensory symptoms and global loss of deep tendon reflex were the distinctive signs of SND,which was characterized by non-length-dependent abnormalities of sensory nerve action potentials,a hallmark of ganglionopathies.The second patient showed normal cervical magnetic resonance imaging possibly because of short course of disease,while diffuse hyperintensity in the spinal posterior columns of SND was reported.Demyelination of spinal posterior columns and loss of mostly large diameter nerve fibers without regeneration clusters were the main pathological features.Conclusions The distinctive clinical features and neurophysiological characteristics of SND indicate that peripheral sensory nerve fibers are widely damaged.Pathology of spinal posterior columns confirm that central sensory pathway are impaired which allow the localization of the pathologic site to the dorsal root ganglion neurons.Cervical spinal MRI of SND are possibly normal at early phase.