calpain and Chromosome-Deletion

Topics: Calpain; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 4; Female; Humans; Middle Aged; Muscle Proteins; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Facioscapulohumeral; Mutation; Phenotype; Syndrome

Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy and congenital brain anomalies, including cobblestone complex and other neuronal migration defects. We report generalized convulsive epilepsy in a boy with normal brain magnetic resonance imaging and Duchenne muscular dystrophy with deletion of dystrophin gene, and we report absence epilepsy with normal brain magnetic resonance imaging in another boy with limb girdle muscular dystrophy with partial calpain deficiency. We, therefore, review coexisting muscular dystrophies and epilepsy in children. In addition to Fukuyama congenital muscular dystrophy, partial or generalized epilepsy has also been reported in the following types of muscular dystrophies, including Duchenne/Becker dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with partial and complete deficiency of laminin alpha2 (merosin) chain, and limb girdle muscular dystrophy with partial calpain deficiency.

Topics: Brain; Calpain; Child; Chromosome Deletion; Diagnosis, Differential; Dystrophin; Epilepsy, Generalized; Epilepsy, Tonic-Clonic; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Duchenne; Neurologic Examination

Several transcription factors interact with GC-rich sequences and positively regulate both housekeeping genes and cellular oncogenes. We have cloned a human cDNA that encodes a factor that binds to the GC-rich sequences present in the epidermal growth factor receptor (EGFR), beta-actin, and calcium-dependent protease (CANP) promoters. This cDNA encodes a 91 kd protein with an extremely basic region at its amino terminus. Deletion analyses with bacterially expressed proteins containing fragments of this factor indicate that this basic region of the protein functions as the DNA binding domain. Expression of this factor in CV1 cells shows that it represses expression originating from both the EGFR and beta-actin promoters as well as chimeric promoters containing the CANP gene. It also represses transcription in cell-free extracts. These results suggest that positive and negative factors may interact with the same control element to account for the diversity of transcriptional regulation.

Topics: Actins; Amino Acid Sequence; Base Composition; Base Sequence; Calpain; Chromosome Deletion; Cloning, Molecular; Deoxyribonuclease I; DNA; ErbB Receptors; Genes; Humans; Molecular Sequence Data; Oligonucleotide Probes; Promoter Regions, Genetic; Protein Binding; Repressor Proteins; Transcription Factors