Значењето на митохондријалните заболувања во дефектологијата
Journal
Journal of Special Education and Rehabilitation
Date Issued
1999
Author(s)
Abstract
Mitochondrial diseases are a group of disorders characterized by
morphological or functional defects of the mitochondria, the organelles producing
most of our cellular energy. As the only extranuclear site carrying genetic
information, the mitochondria add an important chapter in to the inheritance
patterns of genetic disease. Because the mitochondria produce energy in all the
tissues, symptoms resulting from mt DNA mutations may originate from any organ
system, and the clinical spectrum of mitochondrial diseases has expanded to
virtually all branches of medicine.
Diagnosis of mitochondrial dysfunction may be difficult with currently
available tools, however, measuring respiratory chain enzyme activities, mt DNA
levels, and searching for mt DNA mutations and deletions are specific tests.
Treatment of these disorders is currently empirical, involving agents that
may improve the redox status of mitochondria, promote electron flow, or act as
mitochondrial antioxidants.
Limited data are available for genotype/phenotype correlation's in disorder
caused by mt DNA mutations, therefore, prenatal diagnosis for mt DNA mutations
has been hindered by an inability to predict accurately the clinical severity expected
from a mutant load measured in fetal tissue.
morphological or functional defects of the mitochondria, the organelles producing
most of our cellular energy. As the only extranuclear site carrying genetic
information, the mitochondria add an important chapter in to the inheritance
patterns of genetic disease. Because the mitochondria produce energy in all the
tissues, symptoms resulting from mt DNA mutations may originate from any organ
system, and the clinical spectrum of mitochondrial diseases has expanded to
virtually all branches of medicine.
Diagnosis of mitochondrial dysfunction may be difficult with currently
available tools, however, measuring respiratory chain enzyme activities, mt DNA
levels, and searching for mt DNA mutations and deletions are specific tests.
Treatment of these disorders is currently empirical, involving agents that
may improve the redox status of mitochondria, promote electron flow, or act as
mitochondrial antioxidants.
Limited data are available for genotype/phenotype correlation's in disorder
caused by mt DNA mutations, therefore, prenatal diagnosis for mt DNA mutations
has been hindered by an inability to predict accurately the clinical severity expected
from a mutant load measured in fetal tissue.
Subjects
File(s)![Thumbnail Image]()
Loading...
Name
031-037-Vladimir Trajkovski-THE MEANING OF MITOCHONDRIAL DISEASES IN DEFECTOLOGY -JSER-3-4-1999.pdf
Size
65.28 KB
Format
Adobe PDF
Checksum
(MD5):3fe73fb67618d43d24e4bd912e3b3ce3