Mitochondrial diseases in adults.
C La Morgia1,2, A Maresca2, L Caporali2
1From the, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
Journal of Internal Medicine
|May 29, 2020
Summary
Mitochondrial diseases, common genetic disorders in adults, arise from nuclear and mitochondrial DNA. Understanding their complex inheritance and expanded functions is key to diagnosis and treatment.
Area of Science:
- Mitochondrial medicine
- Genetics
- Cellular biology
Background:
- Mitochondrial diseases are common adult genetic disorders.
- They involve complex genotype-phenotype correlations.
- Dual genetic control from nuclear (nDNA) and mitochondrial (mtDNA) genomes complicates understanding.
Purpose of the Study:
- To summarize key clinical aspects of adult mitochondrial diseases.
- To elucidate the pathogenic mechanisms.
- To highlight the expanded scope of mitochondrial functions and clinical involvement.
Main Methods:
- Review of current literature on mitochondrial medicine.
- Analysis of genotype-phenotype correlations.
- Examination of genetic inheritance patterns (nDNA and mtDNA).
Main Results:
- Mitochondrial diseases are frequent in adults, despite individual rarity.
- Pathogenesis involves nuclear and mitochondrial genomes, including mtDNA inheritance and expression.
- Clinical manifestations have expanded beyond neuromuscular to nearly all medical specialties.
Conclusions:
- Mitochondrial medicine has grown significantly over 30 years.
- Understanding mtDNA peculiarities is crucial for comprehending disease mechanisms.
- The broad clinical impact necessitates interdisciplinary approaches for diagnosis and management.
Related Concept Videos
01:37Mitochondria
19.2K
Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
19.2K
01:46Electron Transport Chain: Complex I and II
18.2K
The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
ROS generation is regulated and maintained at moderate levels necessary...
18.2K
01:45Mitochondrial Membranes
16.4K
A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
16.4K
02:59Animal Mitochondrial Genetics
8.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.8K
01:48ATP Synthase: Mechanism
16.4K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
16.4K
01:20Inborn Errors of Metabolism
626
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
626