Herencia Mitocondrial

ADN Mitocondrial y Patrón de Herencia

ADN mitocondrial (ADNmt)

• ADN circular y bicatenario
• 37 genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure que codifican 13 proteínas
• Todas las proteínas son parte del sistema de fosforilación oxidativa (mitocondrias = centrales eléctricas de la célula).
• Ubicado dentro de las mitocondrias, por lo tanto, separado del genoma nuclear de una célula
• La replicación no depende del ciclo celular.
• Cada mitocondria contiene varias copias de su genoma:
  • Homoplasmia: todas las copias de mtDNA mtDNA Double-stranded DNA of mitochondria. In eukaryotes, the mitochondrial genome is circular and codes for ribosomal rnas, transfer rnas, and about 10 proteins. DNA Types and Structure en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum una célula eucariota son idénticas
  • Heteroplasmia: las copias de mtDNA mtDNA Double-stranded DNA of mitochondria. In eukaryotes, the mitochondrial genome is circular and codes for ribosomal rnas, transfer rnas, and about 10 proteins. DNA Types and Structure en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum células eucariotas difieren entre sí → la mayoría de los LOS Neisseria casos de mtDNA mtDNA Double-stranded DNA of mitochondria. In eukaryotes, the mitochondrial genome is circular and codes for ribosomal rnas, transfer rnas, and about 10 proteins. DNA Types and Structure mutado son heteroplasmáticos (solo algunas copias de mtDNA mtDNA Double-stranded DNA of mitochondria. In eukaryotes, the mitochondrial genome is circular and codes for ribosomal rnas, transfer rnas, and about 10 proteins. DNA Types and Structure llevan la mutación).

Patrón de herencia

• La herencia mitocondrial es una forma de herencia extranuclear y, por lo tanto, no mendeliana.
• ADNmt heredado por vía materna:
  • La mayoría de las mitocondrias paternas se encuentran en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la base de la cola del esperma, que se utiliza para impulsar los LOS Neisseria espermatozoides.
  • En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la reproducción sexual, las mitocondrias de los LOS Neisseria espermatozoides de los LOS Neisseria mamíferos son destruidas por el óvulo (ovocito) después de la fertilización.
• Papel de la heteroplasmia:
  • La gravedad de la enfermedad depende de la proporción de alelos mutados versus no mutados que se heredan.
  • Debido a la heteroplasmia, los LOS Neisseria trastornos mitocondriales tienen una presentación variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables dentro de una familia.

Trastornos Mitocondriales

Los LOS Neisseria trastornos mitocondriales son extremadamente variables y pueden variar de presentación clínica leve a grave dentro de la misma familia debido a la heteroplasmia.

• Neuropatía óptica hereditaria de Leber:
  • Degeneración de las células ganglionares de la retina Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outermost layer is pigmented, whereas the inner nine layers are transparent. Eye: Anatomy y los LOS Neisseria nervios ópticos
  • Edad típica de inicio: adultez temprana
  • Pérdida de visión bilateral aguda o subaguda
  • Provoca pérdida permanente de la visión, predominantemente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum hombres jóvenes
• Miopatía mitocondrial, encefalopatía, acidosis Acidosis A pathologic condition of acid accumulation or depletion of base in the body. The two main types are respiratory acidosis and metabolic acidosis, due to metabolic acid build up. Respiratory Acidosis láctica y episodios similares a los LOS Neisseria de accidentes cerebrovasculares:
  • Edad típica de inicio: 2–10 años
  • La acidosis Acidosis A pathologic condition of acid accumulation or depletion of base in the body. The two main types are respiratory acidosis and metabolic acidosis, due to metabolic acid build up. Respiratory Acidosis láctica provoca vómitos, dolor Dolor Inflammation abdominal, fatiga y debilidad muscular.
  • Síntomas menos comunes: episodios similares a un accidente cerebrovascular, ceguera y actividad convulsiva
• Epilepsia mioclónica con fibras rojas rasgadas:
  • Se manifiesta en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia después de un desarrollo previamente normal
  • Síntomas: mioclonías, convulsiones, ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia y miopatía.
  • En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la biopsia muscular se pueden observar fibras rojas rasgadas.
• Síndrome de Leigh:
  • Encefalopatía necrosante subaguda
  • Conduce a lesiones focales en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el tronco encefálico, los LOS Neisseria ganglios basales y el cerebelo.
  • Puede ser causado por mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el ADNmt o en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el ADN nuclear.
  • ↓ Niveles de trifosfato de tiamina
  • Síntomas:
    • Por lo general, comienzan en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia, pero pueden aparecer a cualquier edad.
    • Diarrea, vómitos, disfagia, convulsiones
  • Generalmente letal pocos años después de la aparición de los LOS Neisseria síntomas