Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Can mitochondrial DNA mutations cause sperm dysfunction?

Very low levels of somatic mitochondrial (mt)DNA deletions have been identified in the semen of infertile men. It has been suggested that these mutations cause infertility through an effect on sperm motility, but there has been no direct evidence to show that mutant mtDNA can affect sperm function. We have carried out semen analysis on a male harbouring the A3243G mtDNA mutation and show that h...

Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations

OBJECTIVE To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy. RESEARCH DESIGN AND METHODS Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months. RES...

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Genetic Mutations that Cause Coronary Artery Disease

Mitochondrial Dysfunction & Neurological Disorders

Most of the living organisms derive their energy requirements from ingested food material through controlled metabolic reactions. Prokaryotes like bacteria obtain the ATP, the energy subunit from series of enzymatic reactions which occur in the cytosol [1]. In contrast to prokaryotes, eukaryotes have evolved a highly specialized double membrane organelles i.e., mitochondria encompassing electro...