Genetic factors in amyloidosis.

Thomas, P. K.

doi:10.1136/jmg.12.4.317

Cited by 38 publications

(8 citation statements)

References 69 publications

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“…In 3 (I-III) the clinical picture is dominated by a peripheral neuropathy, while in type IV (Meretoja, Finnish) there is a cranial neuropathy. All have a different mode and site of onset, different symptom complexes, and a different distribution of age-of-onset [Mahloudji et al, 1969;Andrade et al, 1970;Andrade, 1975;Thomas, 1975;Sack et al, 19811.…”

Section: Introductionmentioning

confidence: 99%

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Sequeiros

Saraiva

Opitz³

et al. 1987

Am. J. Med. Genet.

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In a Portuguese-American family with hereditary amyloid neuropathy (familial amyloidotic polyneuropathy), onset was in the seventh decade in all affected relatives. Another unusual characteristic was their origin from the Portuguese island of Madeira. In spite of this, the mutant transthyretin (TTRMet30) (the same variant prealbumin that is the circulating precursor of AFP protein in the classic Portuguese patients) could be found in the propositus' plasma. In addition, three other asymptomatic relatives (ages 90, 73, and 48) were shown to carry the mutation. Late onset and incomplete penetrance, at a clinical level, raise problems for presymptomatic detection of mutant TTR, as these tend to cluster in families. When counseling asymptomatic heterozygotes, we must consider intra-familial correlation in age-of-onset, and the distribution of age-of-onset including age of unaffected heterozygotes. This family poses interesting questions regarding pathogenesis of this degenerative process and the influence of other genetic factors, such as modifiers, epistasis, and polymorphism of the TTR genes or their regulators. A cis-effect of a gene linked to the mutant gene, decreasing the synthesis of the mutant TTR and keeping a sufficient amount of the normal one in circulation, or producing some cofactor for TTR, could also explain late onset and apparently incomplete penetrance; the occasional finding of classic forms in these families would be the result of recombinatory events.

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Section: Introductionmentioning

confidence: 99%

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Sequeiros

Saraiva

Opitz³

et al. 1987

Am. J. Med. Genet.

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“…As a group, patients with Down syndrome are known to have a higher incidence of systemic amyloid than the normal population. 7 The presenting symptoms included hoarseness (5), dyspnea (2), dysphagia (1), and throat soreness (1). The duration of symptoms before diagnosis varied from 6 months to 3 years.…”

Section: Resultsmentioning

confidence: 99%

Surgical Management of Localized Amyloidosis

Kennedy

Patel

2000

The Laryngoscope

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“…While the clinical presentation and organ involvement are diverse in amyloidoses, the importance of heredity in the expression of these diseases has been known for many years 7. Some precursor proteins appeared to be entirely heritable from specific genetic variants, whereas acquired amyloidoses may also be affected by factors associated with post-translational modifications.…”

Section: Introductionmentioning

confidence: 99%

Amyloid heart disease: genetics translated into disease-modifying therapy

Sperry

Tang

2017

Heart

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Given increased awareness and improved non-invasive diagnostic tools, cardiac amyloidosis has become an increasingly recognised aetiology of increased ventricular wall thickness and heart failure with preserved ejection fraction. Once considered a rare disease with no treatment options, translational research has harnessed novel pathways and led the way to promising treatment options. Gene variants that contribute to amyloid heart disease provide unique opportunities to explore potential disease-modifying therapeutic strategies. Amyloidosis has become the model disease through which gene therapy using small interfering RNAs and antisense oligonucleotides has evolved.

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Genetic factors in amyloidosis.

Cited by 38 publications

References 69 publications

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Surgical Management of Localized Amyloidosis

Amyloid heart disease: genetics translated into disease-modifying therapy

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Genetic factors in amyloidosis.

Cited by 38 publications

References 69 publications

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Surgical Management of Localized Amyloidosis

Amyloid heart disease: genetics translated into disease-modifying therapy

Contact Info

Product

Resources

About

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR^Met30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)