Medical genetics: advances in brief: Canavan disease: from spongy degeneration to molecular analysis

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.

Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. It is an autosomal recessive disease found more frequently among Ashkenazi Jews. The clinical features are those of severe mental retardation with inability to gain developmental milestones. Hypotonia, head lag and macrocephaly are characteristic of Canavan ...

Recent advances in medical genetics.

Advances in molecular genetics of congenital heart disease.

See article on pageS 263-72 While congenital heart diseases (CHD) are common causes of mortality and morbidity in infants and children, the basic underlying genetic and molecular mechanisms have remained largely undetermined. Breakthroughs in molecular genetic technology have just begun to be applied in pediatric cardiology stemming from the use of chromosomal mapping and the identification of ...

Technological Advances in Bifidobacterial Molecular Genetics: Application to Functional Genomics and Medical Treatments

Bifidobacteria are well known as beneficial intestinal bacteria that exert health-promoting effects in humans. In addition to physiological and immunological investigations, molecular genetic technologies have been developed and have recently started to be applied to clarify the molecular bases of host-Bifidobacterium interactions. These technologies include transformation technologies and Esch...

Pneumoviruses: Molecular Genetics and Reverse Genetics

Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...