Alstrom syndrome is a rare autosomal recessive multi-organ syndrome caused by variations in ALMS1 gene. We explore the underlying genetic cause in one case of Alstrom syndrome who manifasted childhood obesity, hyperinsulinemia, and acanthosis using the whole-exome sequencing, to improve clinicians′ awareness of the disease. The proband presented with obesity, acanthosis, hyperinsulinemia, and fatty liver in childhood, but without typical manifestations of Alstrom syndrome, such as retinal degeneration, hearing impairment and cardiomyopathty. Whole-exome sequencing revealed that the proband carried a complex heterozygous ALMS1 mutation, including c. 1A>T(p.M1? ) and c. 8971G>C, p. D2991H. Family verification found that his father wass heterozygous for the c. 1A>T mutation, his mother was heterozygous for the c. 8971G>C mutation, and the sister′s ALMS1 gene detection and clinical phenotype were normal, which was consistent with the autosomal recessive inheritance pattern. Through bioinformatics analysis, the new mutations c. 1A>T and c. 8971G>C in the ALMS1 gene were identified as deleterious mutations. In this study, a single case of Alstrom syndrome was reported with childhood obesity, acanthosis nigricans, and hyperinsulinemia as the main manifestations, and two new ALMSl gene mutations were discovered, which expanded the phenotype and pathogenic mutation spectrum of Alstrom syndrome.

Myotonic dystrophy type 1 (DM1, OMIM 160900) is a rare autosomal dominant hereditary disease. A case of DM1 patient with early onset diabetes and decreased muscle strength was treated in the Department of Endocrinology, Third Xiangya Hospital, Central South University. The peripheral blood of the patient was collected to extract DNA for gene detection. It was found that the triple nucleotide CTG repeat in the 3'-untranslated region (3'-UTR) of the dystrophia myotonica protein kinase (DMPK) gene was more than 100 times, and the diagnosis of DM1 was clear. For diabetes patients with multiple system abnormalities such as muscle symptoms, attention should be paid to the screening of DM1, a rare disease.
Humans ; Myotonic Dystrophy/genetics* ; Abnormalities, Multiple ; Hospitals ; Universities ; Diabetes Mellitus

OBJECTIVETo investigate whether the antioxidation and the regulation on the Extracellular Regulated Protein Kinases (ERK) signaling pathway are involved in the protective effects of blueberry on central nervous system.

METHODS30 Senescence-accelerated mice prone 8 (SAMP8) mice were divided into three groups and treated with normal diet, blueberry extracts (200 mg/kg•bw/day) and cyaniding-3-O-galactoside (Cy-3-GAL) (50 mg/kg•bw/day) from blueberry for 8 weeks. 10 SAMR1 mice were set as control group. The capacity of spatial memory was assessed by Passive avoidance task and Morris water maze. Histological analyses on hippocampus were completed. Malondialdehyde (MDA) levels, Superoxide Dismutase (SOD) activity and the expression of ERK were detected.

RESULTSBoth Cy-3-GAL and blueberry extracts were shown effective functions to relieve cellular injury, improve hippocampal neurons survival and inhibit the pyramidal cell layer damage. Cy-3-GAL and blueberry extracts also increased SOD activity and reduced MDA content in brain tissues and plasma, and increased hippocampal phosphorylated ERK (p-ERK) expression in SAMP8 mice. Further more, the passive avoidance task test showed that both the latency time and the number of errors were improved by Cy-3-GAL treatment, and the Morris Water Maze test showed significant decreases of latency were detected by Cy-3-GAL and blueberry extracts treatment on day 4.

CONCLUSIONBlueberry extracts may reverse the declines of cognitive and behavioral function in the ageing process through several pathways, including enhancing the capacity of antioxidation, altering stress signaling. Cy-3-GAL may be an important active ingredient for these biological effects.

Aging ; drug effects ; Animals ; Anthocyanins ; pharmacology ; Avoidance Learning ; Blueberry Plants ; chemistry ; Dietary Supplements ; Galactosides ; pharmacology ; Hippocampus ; drug effects ; metabolism ; Malondialdehyde ; metabolism ; Maze Learning ; Memory ; drug effects ; Mice ; Mitogen-Activated Protein Kinase 3 ; metabolism ; Phosphorylation ; Plant Extracts ; pharmacology ; Superoxide Dismutase ; metabolism