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Mitochondrial hypertrophy

MedGen UID:
1740956
Concept ID:
C5435767
Finding
Synonyms: Hypertrophy, Mitochondrial; Megamitochondria; Megamitochondrias; Mitochondrial Hypertrophies; Mitochondrial Hypertrophy
 
HPO: HP:0033686

Definition

Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial hypertrophy

Conditions with this feature

Megaconial type congenital muscular dystrophy
MedGen UID:
355943
Concept ID:
C1865233
Disease or Syndrome
Megaconial-type congenital muscular dystrophy (MDCMC) is an autosomal recessive disorder characterized by early-onset muscle wasting and impaired intellectual development. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MedGen UID:
1731194
Concept ID:
C5435765
Disease or Syndrome
Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
MedGen UID:
1794190
Concept ID:
C5561980
Disease or Syndrome
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (Foley et al., 2020).

Professional guidelines

PubMed

Packer M
Eur J Heart Fail 2023 Dec;25(12):2130-2143. Epub 2023 Nov 14 doi: 10.1002/ejhf.3068. PMID: 37877337
Nakamura K, Miyoshi T, Yoshida M, Akagi S, Saito Y, Ejiri K, Matsuo N, Ichikawa K, Iwasaki K, Naito T, Namba Y, Yoshida M, Sugiyama H, Ito H
Int J Mol Sci 2022 Mar 25;23(7) doi: 10.3390/ijms23073587. PMID: 35408946Free PMC Article
Thenappan T, Ormiston ML, Ryan JJ, Archer SL
BMJ 2018 Mar 14;360:j5492. doi: 10.1136/bmj.j5492. PMID: 29540357Free PMC Article

Recent clinical studies

Etiology

Pesaola F, Kohan R, Cismondi IA, Guelbert N, Pons P, Oller-Ramirez AM, Noher de Halac I
Rev Neurol 2019 Feb 16;68(4):155-159. PMID: 30741402

Diagnosis

Da Silva GH, Coelho KI, Coelho CA, Escanhoela CA
J Gastrointestin Liver Dis 2009 Jun;18(2):215-9. PMID: 19565055

Prognosis

Pesaola F, Kohan R, Cismondi IA, Guelbert N, Pons P, Oller-Ramirez AM, Noher de Halac I
Rev Neurol 2019 Feb 16;68(4):155-159. PMID: 30741402

Clinical prediction guides

Sgarbi G, Matarrese P, Pinti M, Lanzarini C, Ascione B, Gibellini L, Dika E, Patrizi A, Tommasino C, Capri M, Cossarizza A, Baracca A, Lenaz G, Solaini G, Franceschi C, Malorni W, Salvioli S
Aging (Albany NY) 2014 Apr;6(4):296-310. doi: 10.18632/aging.100654. PMID: 24799450Free PMC Article
Da Silva GH, Coelho KI, Coelho CA, Escanhoela CA
J Gastrointestin Liver Dis 2009 Jun;18(2):215-9. PMID: 19565055

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