Showing papers by "Michael T. Lin published in 1998"

Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis

Abstract: Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by mutations in keratins 1 and 10. We have used direct gene sequencing to ascertain the status of a 15 week fetus of parents whose first child was affected with this disorder. The parents show no clinical signs of epidermolytic hyperkeratosis but were concerned about the possibility of transmitting the disorder due to germline mosaicism. Molecular analysis of the affected son revealed a G to A mutation in codon 156 of keratin 10, resulting in an arginine to histidine substitution within the highly conserved 1A region. Codon 156 has been previously identified as a mutational hot spot and substitutions of this arginine residue are very common in epidermolytic hyperkeratosis patients. Analysis of genomic DNA isolated from amniotic cells showed that the fetus did not harbour this mutation and a healthy infant was eventually born that was unaffected by this disorder.

Mitochondrial Dysfunction and Neurodegenerative Diseases

Abstract: The neurodegenerative diseases are a heterogeneous group of illnesses, of which prototypical examples are Alzheimer’s disease (AD), Parkinson’s disease (PD), Huntington’s disease (HD), and amyotrophic lateral sclerosis (ALS). The key feature shared by these diseases is the insidious onset in middle or old age of slowly progressive degeneration of circumscribed groups of neurons. The etiologies and pathogeneses of neuronal loss in these illnesses are still largely unknown and under intense investigation. Although the past several years have seen major advances in identifying genes associated with familial forms of several neurodegenerative diseases, it is still unclear how these genetic defects result in neuronal degeneration.