Biomaterial Database

Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. 2014

Yuko Ohnuki, and Kazumi Takahashi, and Eri Iijima, and Wakoh Takahashi, and Shingo Suzuki, and Yuki Ozaki, and Ruriko Kitao, and Masatoshi Mihara, and Tadayuki Ishihara, and Michiyo Nakamura, and Yoshie Sawano, and Yu-ichi Goto, and Shunichiro Izumi, and Jerzy K Kulski, and Takashi Shiina, and Shunya Takizawa

Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan.

Progressive external ophthalmoplegia (PEO) is one of a number of major types of mitochondrial disorders. Most sporadic PEO patients have a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in the mitochondria in skeletal muscles. We herein analyzed mtDNA deletions using sub-cloning and Sanger sequencing of PCR products in a 31-year-old Japanese man with multiple symptoms, including PEO, muscle weakness, hearing loss, leukoencephalopathy and hypogonadism. A large number of multiple deletions was detected, as well as four kinds of deletion breakpoints identified in different locations, including m.3347_12322, m.5818_13964, m.5829_13964 and m.5837_13503.

UI	MeSH Term	Description	Entries
D007006	Hypogonadism	Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).	Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
D008297	Male		Males
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D017246	Ophthalmoplegia, Chronic Progressive External	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	CPEO,Graefe Disease,Mitochondrial Ocular Myopathy,Ocular Muscular Dystrophy,Chronic Progressive External Ophthalmoplegia,Graefe's Disease,Ocular Myopathy of Von Graefe-Fuchs,Ophthalmoplegia, Progressive External,Progressive External Ophthalmoplegia,Disease, Graefe,Dystrophy, Ocular Muscular,External Ophthalmoplegia, Progressive,Muscular Dystrophies, Ocular,Muscular Dystrophy, Ocular,Myopathy, Mitochondrial Ocular,Ocular Muscular Dystrophies,Ocular Myopathy of Von Graefe Fuchs,Ocular Myopathy, Mitochondrial
D017384	Sequence Deletion	Deletion of sequences of nucleic acids from the genetic material of an individual.	Deletion Mutation,Deletion Mutations,Deletion, Sequence,Deletions, Sequence,Mutation, Deletion,Mutations, Deletion,Sequence Deletions
D056784	Leukoencephalopathies	Any of various diseases affecting the white matter of the central nervous system.	Childhood Ataxia with Diffuse Central Nervous System Hypomyelination,Leukoencephalopathy,Leukoencephalopathy with Vanishing White Matter,Vanishing White Matter Disease,CACH Syndrome,CACH VWM Syndrome,Childhood Ataxia with Central Nervous System Hypomyelination,Childhood Ataxia with Central Nervous System Hypomyelinization,Cree Leukoencephalopathy,Myelinosis Centralis Diffusa,Vanishing White Matter Leukodystrophy,White Matter Diseases,CACH Syndromes,CACH VWM Syndromes,Centralis Diffusa, Myelinosis,Cree Leukoencephalopathies,Diffusa, Myelinosis Centralis,Diffusas, Myelinosis Centralis,Leukoencephalopathy, Cree,Myelinosis Centralis Diffusas,Syndrome, CACH VWM,VWM Syndrome, CACH,White Matter Disease
D018908	Muscle Weakness	A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)	Muscular Weakness,Muscle Weaknesses,Muscular Weaknesses,Weakness, Muscle,Weakness, Muscular,Weaknesses, Muscle,Weaknesses, Muscular
D034381	Hearing Loss	A general term for the complete or partial loss of the ability to hear from one or both ears.	Deafness, Transitory,Hearing Impairment,Hearing Loss, Transitory,Hypoacusis,Transitory Hearing Loss,Deafnesses, Transitory,Hypoacuses,Loss, Hearing,Loss, Transitory Hearing,Transitory Deafness,Transitory Deafnesses,Transitory Hearing Losses